SNP Links for Protein (Select 530382500) - SNP

Links from Protein

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Select item 14900093381.

rs1490009338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:49692858 (GRCh38)
6:49660571 (GRCh37)
Canonical SPDI:: NC_000006.12:49692857:G:C
Gene:: CRISP2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.49692858G>C, NC_000006.11:g.49660571G>C, XM_005249353.5:c.752C>G, XM_005249353.4:c.752C>G, XM_005249353.3:c.752C>G, XM_005249353.2:c.752C>G, XM_005249353.1:c.752C>G, XM_005249351.4:c.752C>G, XM_005249351.3:c.752C>G, XM_005249351.2:c.752C>G, XM_005249351.1:c.752C>G, NM_003296.4:c.647C>G, NM_003296.3:c.647C>G, NM_001142408.3:c.647C>G, NM_001142408.2:c.647C>G, NM_001142417.3:c.647C>G, NM_001142417.2:c.647C>G, NM_001142435.3:c.647C>G, NM_001142435.2:c.647C>G, NM_001142407.3:c.647C>G, NM_001142407.2:c.647C>G, XM_011514841.2:c.752C>G, XM_011514841.1:c.752C>G, XM_005249356.2:c.752C>G, XM_005249356.1:c.752C>G, XM_005249349.2:c.752C>G, XM_005249349.1:c.752C>G, NM_001261822.2:c.647C>G, NM_001261822.1:c.647C>G, XP_005249410.1:p.Ser251Cys, XP_005249408.1:p.Ser251Cys, NP_003287.1:p.Ser216Cys, NP_001135880.1:p.Ser216Cys, NP_001135889.1:p.Ser216Cys, NP_001135907.1:p.Ser216Cys, NP_001135879.1:p.Ser216Cys, XP_011513143.1:p.Ser251Cys, XP_005249413.1:p.Ser251Cys, XP_005249406.1:p.Ser251Cys, NP_001248751.1:p.Ser216Cys

Select item 14879609032.

rs1487960903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:49695863 (GRCh38)
6:49663576 (GRCh37)
Canonical SPDI:: NC_000006.12:49695862:G:A,NC_000006.12:49695862:G:C
Gene:: CRISP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49695863G>A, NC_000006.12:g.49695863G>C, NC_000006.11:g.49663576G>A, NC_000006.11:g.49663576G>C, XM_005249353.5:c.682C>T, XM_005249353.5:c.682C>G, XM_005249353.4:c.682C>T, XM_005249353.4:c.682C>G, XM_005249353.3:c.682C>T, XM_005249353.3:c.682C>G, XM_005249353.2:c.682C>T, XM_005249353.2:c.682C>G, XM_005249353.1:c.682C>T, XM_005249353.1:c.682C>G, XM_005249351.4:c.682C>T, XM_005249351.4:c.682C>G, XM_005249351.3:c.682C>T, XM_005249351.3:c.682C>G, XM_005249351.2:c.682C>T, XM_005249351.2:c.682C>G, XM_005249351.1:c.682C>T, XM_005249351.1:c.682C>G, NM_003296.4:c.577C>T, NM_003296.4:c.577C>G, NM_003296.3:c.577C>T, NM_003296.3:c.577C>G, XR_926302.4:n.901C>T, XR_926302.4:n.901C>G, XR_926302.3:n.883C>T, XR_926302.3:n.883C>G, XR_926302.2:n.927C>T, XR_926302.2:n.927C>G, XR_926302.1:n.927C>T, XR_926302.1:n.927C>G, XM_011514843.4:c.682C>T, XM_011514843.4:c.682C>G, XM_011514843.3:c.682C>T, XM_011514843.3:c.682C>G, XM_011514843.2:c.682C>T, XM_011514843.2:c.682C>G, XM_011514843.1:c.682C>T, XM_011514843.1:c.682C>G, NM_001142408.3:c.577C>T, NM_001142408.3:c.577C>G, NM_001142408.2:c.577C>T, NM_001142408.2:c.577C>G, NM_001142417.3:c.577C>T, NM_001142417.3:c.577C>G, NM_001142417.2:c.577C>T, NM_001142417.2:c.577C>G, NM_001142435.3:c.577C>T, NM_001142435.3:c.577C>G, NM_001142435.2:c.577C>T, NM_001142435.2:c.577C>G, NM_001142407.3:c.577C>T, NM_001142407.3:c.577C>G, NM_001142407.2:c.577C>T, NM_001142407.2:c.577C>G, XM_011514841.2:c.682C>T, XM_011514841.2:c.682C>G, XM_011514841.1:c.682C>T, XM_011514841.1:c.682C>G, XM_005249356.2:c.682C>T, XM_005249356.2:c.682C>G, XM_005249356.1:c.682C>T, XM_005249356.1:c.682C>G, XM_005249349.2:c.682C>T, XM_005249349.2:c.682C>G, XM_005249349.1:c.682C>T, XM_005249349.1:c.682C>G, NM_001261822.2:c.577C>T, NM_001261822.2:c.577C>G, NM_001261822.1:c.577C>T, NM_001261822.1:c.577C>G, XP_005249410.1:p.Pro228Ser, XP_005249410.1:p.Pro228Ala, XP_005249408.1:p.Pro228Ser, XP_005249408.1:p.Pro228Ala, NP_003287.1:p.Pro193Ser, NP_003287.1:p.Pro193Ala, XP_011513145.1:p.Pro228Ser, XP_011513145.1:p.Pro228Ala, NP_001135880.1:p.Pro193Ser, NP_001135880.1:p.Pro193Ala, NP_001135889.1:p.Pro193Ser, NP_001135889.1:p.Pro193Ala, NP_001135907.1:p.Pro193Ser, NP_001135907.1:p.Pro193Ala, NP_001135879.1:p.Pro193Ser, NP_001135879.1:p.Pro193Ala, XP_011513143.1:p.Pro228Ser, XP_011513143.1:p.Pro228Ala, XP_005249413.1:p.Pro228Ser, XP_005249413.1:p.Pro228Ala, XP_005249406.1:p.Pro228Ser, XP_005249406.1:p.Pro228Ala, NP_001248751.1:p.Pro193Ser, NP_001248751.1:p.Pro193Ala

Select item 14834153753.

rs1483415375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49698410 (GRCh38)
6:49666123 (GRCh37)
Canonical SPDI:: NC_000006.12:49698409:A:G
Gene:: CRISP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49698410A>G, NC_000006.11:g.49666123A>G, XM_005249353.5:c.369T>C, XM_005249353.4:c.369T>C, XM_005249353.3:c.369T>C, XM_005249353.2:c.369T>C, XM_005249353.1:c.369T>C, XM_005249351.4:c.369T>C, XM_005249351.3:c.369T>C, XM_005249351.2:c.369T>C, XM_005249351.1:c.369T>C, NM_003296.4:c.369T>C, NM_003296.3:c.369T>C, XR_926302.4:n.588T>C, XR_926302.3:n.570T>C, XR_926302.2:n.614T>C, XR_926302.1:n.614T>C, XM_011514843.4:c.369T>C, XM_011514843.3:c.369T>C, XM_011514843.2:c.369T>C, XM_011514843.1:c.369T>C, NM_001142408.3:c.369T>C, NM_001142408.2:c.369T>C, NM_001142417.3:c.369T>C, NM_001142417.2:c.369T>C, NM_001142435.3:c.369T>C, NM_001142435.2:c.369T>C, NM_001142407.3:c.369T>C, NM_001142407.2:c.369T>C, XM_011514841.2:c.369T>C, XM_011514841.1:c.369T>C, XM_005249356.2:c.369T>C, XM_005249356.1:c.369T>C, XM_005249349.2:c.369T>C, XM_005249349.1:c.369T>C, NM_001261822.2:c.369T>C, NM_001261822.1:c.369T>C, XM_047419292.1:c.369T>C, XM_047419293.1:c.369T>C

Select item 14720890904.

rs1472089090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:49699825 (GRCh38)
6:49667538 (GRCh37)
Canonical SPDI:: NC_000006.12:49699824:C:G,NC_000006.12:49699824:C:T
Gene:: CRISP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49699825C>G, NC_000006.12:g.49699825C>T, NC_000006.11:g.49667538C>G, NC_000006.11:g.49667538C>T, XM_005249353.5:c.250G>C, XM_005249353.5:c.250G>A, XM_005249353.4:c.250G>C, XM_005249353.4:c.250G>A, XM_005249353.3:c.250G>C, XM_005249353.3:c.250G>A, XM_005249353.2:c.250G>C, XM_005249353.2:c.250G>A, XM_005249353.1:c.250G>C, XM_005249353.1:c.250G>A, XM_005249351.4:c.250G>C, XM_005249351.4:c.250G>A, XM_005249351.3:c.250G>C, XM_005249351.3:c.250G>A, XM_005249351.2:c.250G>C, XM_005249351.2:c.250G>A, XM_005249351.1:c.250G>C, XM_005249351.1:c.250G>A, NM_003296.4:c.250G>C, NM_003296.4:c.250G>A, NM_003296.3:c.250G>C, NM_003296.3:c.250G>A, XR_926302.4:n.469G>C, XR_926302.4:n.469G>A, XR_926302.3:n.451G>C, XR_926302.3:n.451G>A, XR_926302.2:n.495G>C, XR_926302.2:n.495G>A, XR_926302.1:n.495G>C, XR_926302.1:n.495G>A, XM_011514843.4:c.250G>C, XM_011514843.4:c.250G>A, XM_011514843.3:c.250G>C, XM_011514843.3:c.250G>A, XM_011514843.2:c.250G>C, XM_011514843.2:c.250G>A, XM_011514843.1:c.250G>C, XM_011514843.1:c.250G>A, NM_001142408.3:c.250G>C, NM_001142408.3:c.250G>A, NM_001142408.2:c.250G>C, NM_001142408.2:c.250G>A, NM_001142417.3:c.250G>C, NM_001142417.3:c.250G>A, NM_001142417.2:c.250G>C, NM_001142417.2:c.250G>A, NM_001142435.3:c.250G>C, NM_001142435.3:c.250G>A, NM_001142435.2:c.250G>C, NM_001142435.2:c.250G>A, NM_001142407.3:c.250G>C, NM_001142407.3:c.250G>A, NM_001142407.2:c.250G>C, NM_001142407.2:c.250G>A, XM_011514841.2:c.250G>C, XM_011514841.2:c.250G>A, XM_011514841.1:c.250G>C, XM_011514841.1:c.250G>A, XM_005249356.2:c.250G>C, XM_005249356.2:c.250G>A, XM_005249356.1:c.250G>C, XM_005249356.1:c.250G>A, XM_005249349.2:c.250G>C, XM_005249349.2:c.250G>A, XM_005249349.1:c.250G>C, XM_005249349.1:c.250G>A, NM_001261822.2:c.250G>C, NM_001261822.2:c.250G>A, NM_001261822.1:c.250G>C, NM_001261822.1:c.250G>A, XM_047419292.1:c.250G>C, XM_047419292.1:c.250G>A, XM_047419293.1:c.250G>C, XM_047419293.1:c.250G>A, XP_005249410.1:p.Asp84His, XP_005249410.1:p.Asp84Asn, XP_005249408.1:p.Asp84His, XP_005249408.1:p.Asp84Asn, NP_003287.1:p.Asp84His, NP_003287.1:p.Asp84Asn, XP_011513145.1:p.Asp84His, XP_011513145.1:p.Asp84Asn, NP_001135880.1:p.Asp84His, NP_001135880.1:p.Asp84Asn, NP_001135889.1:p.Asp84His, NP_001135889.1:p.Asp84Asn, NP_001135907.1:p.Asp84His, NP_001135907.1:p.Asp84Asn, NP_001135879.1:p.Asp84His, NP_001135879.1:p.Asp84Asn, XP_011513143.1:p.Asp84His, XP_011513143.1:p.Asp84Asn, XP_005249413.1:p.Asp84His, XP_005249413.1:p.Asp84Asn, XP_005249406.1:p.Asp84His, XP_005249406.1:p.Asp84Asn, NP_001248751.1:p.Asp84His, NP_001248751.1:p.Asp84Asn, XP_047275248.1:p.Asp84His, XP_047275248.1:p.Asp84Asn, XP_047275249.1:p.Asp84His, XP_047275249.1:p.Asp84Asn

Select item 14713270525.

rs1471327052 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:49692794 (GRCh38)
6:49660507 (GRCh37)
Canonical SPDI:: NC_000006.12:49692793:T:A
Gene:: CRISP2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49692794T>A, NC_000006.11:g.49660507T>A, XM_005249353.5:c.816A>T, XM_005249353.4:c.816A>T, XM_005249353.3:c.816A>T, XM_005249353.2:c.816A>T, XM_005249353.1:c.816A>T, XM_005249351.4:c.816A>T, XM_005249351.3:c.816A>T, XM_005249351.2:c.816A>T, XM_005249351.1:c.816A>T, NM_003296.4:c.711A>T, NM_003296.3:c.711A>T, NM_001142408.3:c.711A>T, NM_001142408.2:c.711A>T, NM_001142417.3:c.711A>T, NM_001142417.2:c.711A>T, NM_001142435.3:c.711A>T, NM_001142435.2:c.711A>T, NM_001142407.3:c.711A>T, NM_001142407.2:c.711A>T, XM_011514841.2:c.816A>T, XM_011514841.1:c.816A>T, XM_005249356.2:c.816A>T, XM_005249356.1:c.816A>T, XM_005249349.2:c.816A>T, XM_005249349.1:c.816A>T, NM_001261822.2:c.711A>T, NM_001261822.1:c.711A>T

Select item 14646760206.

rs1464676020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49692877 (GRCh38)
6:49660590 (GRCh37)
Canonical SPDI:: NC_000006.12:49692876:G:A
Gene:: CRISP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49692877G>A, NC_000006.11:g.49660590G>A, XM_005249353.5:c.733C>T, XM_005249353.4:c.733C>T, XM_005249353.3:c.733C>T, XM_005249353.2:c.733C>T, XM_005249353.1:c.733C>T, XM_005249351.4:c.733C>T, XM_005249351.3:c.733C>T, XM_005249351.2:c.733C>T, XM_005249351.1:c.733C>T, NM_003296.4:c.628C>T, NM_003296.3:c.628C>T, NM_001142408.3:c.628C>T, NM_001142408.2:c.628C>T, NM_001142417.3:c.628C>T, NM_001142417.2:c.628C>T, NM_001142435.3:c.628C>T, NM_001142435.2:c.628C>T, NM_001142407.3:c.628C>T, NM_001142407.2:c.628C>T, XM_011514841.2:c.733C>T, XM_011514841.1:c.733C>T, XM_005249356.2:c.733C>T, XM_005249356.1:c.733C>T, XM_005249349.2:c.733C>T, XM_005249349.1:c.733C>T, NM_001261822.2:c.628C>T, NM_001261822.1:c.628C>T, XP_005249410.1:p.Leu245Phe, XP_005249408.1:p.Leu245Phe, NP_003287.1:p.Leu210Phe, NP_001135880.1:p.Leu210Phe, NP_001135889.1:p.Leu210Phe, NP_001135907.1:p.Leu210Phe, NP_001135879.1:p.Leu210Phe, XP_011513143.1:p.Leu245Phe, XP_005249413.1:p.Leu245Phe, XP_005249406.1:p.Leu245Phe, NP_001248751.1:p.Leu210Phe

Select item 14637675567.

rs1463767556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:49692842 (GRCh38)
6:49660555 (GRCh37)
Canonical SPDI:: NC_000006.12:49692841:A:T
Gene:: CRISP2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49692842A>T, NC_000006.11:g.49660555A>T, XM_005249353.5:c.768T>A, XM_005249353.4:c.768T>A, XM_005249353.3:c.768T>A, XM_005249353.2:c.768T>A, XM_005249353.1:c.768T>A, XM_005249351.4:c.768T>A, XM_005249351.3:c.768T>A, XM_005249351.2:c.768T>A, XM_005249351.1:c.768T>A, NM_003296.4:c.663T>A, NM_003296.3:c.663T>A, NM_001142408.3:c.663T>A, NM_001142408.2:c.663T>A, NM_001142417.3:c.663T>A, NM_001142417.2:c.663T>A, NM_001142435.3:c.663T>A, NM_001142435.2:c.663T>A, NM_001142407.3:c.663T>A, NM_001142407.2:c.663T>A, XM_011514841.2:c.768T>A, XM_011514841.1:c.768T>A, XM_005249356.2:c.768T>A, XM_005249356.1:c.768T>A, XM_005249349.2:c.768T>A, XM_005249349.1:c.768T>A, NM_001261822.2:c.663T>A, NM_001261822.1:c.663T>A

Select item 14579893208.

rs1457989320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49697737 (GRCh38)
6:49665450 (GRCh37)
Canonical SPDI:: NC_000006.12:49697736:T:C
Gene:: CRISP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.49697737T>C, NC_000006.11:g.49665450T>C, XM_005249353.5:c.559A>G, XM_005249353.4:c.559A>G, XM_005249353.3:c.559A>G, XM_005249353.2:c.559A>G, XM_005249353.1:c.559A>G, XM_005249351.4:c.559A>G, XM_005249351.3:c.559A>G, XM_005249351.2:c.559A>G, XM_005249351.1:c.559A>G, XR_926302.4:n.778A>G, XR_926302.3:n.760A>G, XR_926302.2:n.804A>G, XR_926302.1:n.804A>G, XM_011514843.4:c.559A>G, XM_011514843.3:c.559A>G, XM_011514843.2:c.559A>G, XM_011514843.1:c.559A>G, XM_011514841.2:c.559A>G, XM_011514841.1:c.559A>G, XM_005249356.2:c.559A>G, XM_005249356.1:c.559A>G, XM_005249349.2:c.559A>G, XM_005249349.1:c.559A>G, XM_047419292.1:c.*23A>G, XP_005249410.1:p.Lys187Glu, XP_005249408.1:p.Lys187Glu, XP_011513145.1:p.Lys187Glu, XP_011513143.1:p.Lys187Glu, XP_005249413.1:p.Lys187Glu, XP_005249406.1:p.Lys187Glu

Select item 14499976769.

rs1449997676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:49692888 (GRCh38)
6:49660601 (GRCh37)
Canonical SPDI:: NC_000006.12:49692887:T:G
Gene:: CRISP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.49692888T>G, NC_000006.11:g.49660601T>G, XM_005249353.5:c.722A>C, XM_005249353.4:c.722A>C, XM_005249353.3:c.722A>C, XM_005249353.2:c.722A>C, XM_005249353.1:c.722A>C, XM_005249351.4:c.722A>C, XM_005249351.3:c.722A>C, XM_005249351.2:c.722A>C, XM_005249351.1:c.722A>C, NM_003296.4:c.617A>C, NM_003296.3:c.617A>C, NM_001142408.3:c.617A>C, NM_001142408.2:c.617A>C, NM_001142417.3:c.617A>C, NM_001142417.2:c.617A>C, NM_001142435.3:c.617A>C, NM_001142435.2:c.617A>C, NM_001142407.3:c.617A>C, NM_001142407.2:c.617A>C, XM_011514841.2:c.722A>C, XM_011514841.1:c.722A>C, XM_005249356.2:c.722A>C, XM_005249356.1:c.722A>C, XM_005249349.2:c.722A>C, XM_005249349.1:c.722A>C, NM_001261822.2:c.617A>C, NM_001261822.1:c.617A>C, XP_005249410.1:p.Gln241Pro, XP_005249408.1:p.Gln241Pro, NP_003287.1:p.Gln206Pro, NP_001135880.1:p.Gln206Pro, NP_001135889.1:p.Gln206Pro, NP_001135907.1:p.Gln206Pro, NP_001135879.1:p.Gln206Pro, XP_011513143.1:p.Gln241Pro, XP_005249413.1:p.Gln241Pro, XP_005249406.1:p.Gln241Pro, NP_001248751.1:p.Gln206Pro

Select item 144899115010.

rs1448991150 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 6:49698392 (GRCh38)
6:49666105 (GRCh37)
Canonical SPDI:: NC_000006.12:49698391:A:
Gene:: CRISP2 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.49698392del, NC_000006.11:g.49666105del, XM_005249353.5:c.387del, XM_005249353.4:c.387del, XM_005249353.3:c.387del, XM_005249353.2:c.387del, XM_005249353.1:c.387del, XM_005249351.4:c.387del, XM_005249351.3:c.387del, XM_005249351.2:c.387del, XM_005249351.1:c.387del, NM_003296.4:c.387del, NM_003296.3:c.387del, XR_926302.4:n.606del, XR_926302.3:n.588del, XR_926302.2:n.632del, XR_926302.1:n.632del, XM_011514843.4:c.387del, XM_011514843.3:c.387del, XM_011514843.2:c.387del, XM_011514843.1:c.387del, NM_001142408.3:c.387del, NM_001142408.2:c.387del, NM_001142417.3:c.387del, NM_001142417.2:c.387del, NM_001142435.3:c.387del, NM_001142435.2:c.387del, NM_001142407.3:c.387del, NM_001142407.2:c.387del, XM_011514841.2:c.387del, XM_011514841.1:c.387del, XM_005249356.2:c.387del, XM_005249356.1:c.387del, XM_005249349.2:c.387del, XM_005249349.1:c.387del, NM_001261822.2:c.387del, NM_001261822.1:c.387del, XM_047419292.1:c.387del, XM_047419293.1:c.387del, XP_005249410.1:p.Asn131fs, XP_005249408.1:p.Asn131fs, NP_003287.1:p.Asn131fs, XP_011513145.1:p.Asn131fs, NP_001135880.1:p.Asn131fs, NP_001135889.1:p.Asn131fs, NP_001135907.1:p.Asn131fs, NP_001135879.1:p.Asn131fs, XP_011513143.1:p.Asn131fs, XP_005249413.1:p.Asn131fs, XP_005249406.1:p.Asn131fs, NP_001248751.1:p.Asn131fs, XP_047275248.1:p.Asn131fs, XP_047275249.1:p.Asn131fs

Select item 144778600211.

rs1447786002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:49697702 (GRCh38)
6:49665415 (GRCh37)
Canonical SPDI:: NC_000006.12:49697701:G:T
Gene:: CRISP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant,3_prime_UTR_variant
HGVS:: NC_000006.12:g.49697702G>T, NC_000006.11:g.49665415G>T, XM_005249353.5:c.594C>A, XM_005249353.4:c.594C>A, XM_005249353.3:c.594C>A, XM_005249353.2:c.594C>A, XM_005249353.1:c.594C>A, XM_005249351.4:c.594C>A, XM_005249351.3:c.594C>A, XM_005249351.2:c.594C>A, XM_005249351.1:c.594C>A, XR_926302.4:n.813C>A, XR_926302.3:n.795C>A, XR_926302.2:n.839C>A, XR_926302.1:n.839C>A, XM_011514843.4:c.594C>A, XM_011514843.3:c.594C>A, XM_011514843.2:c.594C>A, XM_011514843.1:c.594C>A, XM_011514841.2:c.594C>A, XM_011514841.1:c.594C>A, XM_005249356.2:c.594C>A, XM_005249356.1:c.594C>A, XM_005249349.2:c.594C>A, XM_005249349.1:c.594C>A, XM_047419292.1:c.*58C>A

Select item 144776050712.

rs1447760507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:49709131 (GRCh38)
6:49676844 (GRCh37)
Canonical SPDI:: NC_000006.12:49709130:C:G,NC_000006.12:49709130:C:T
Gene:: CRISP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.49709131C>G, NC_000006.12:g.49709131C>T, NC_000006.11:g.49676844C>G, NC_000006.11:g.49676844C>T, XM_005249353.5:c.66G>C, XM_005249353.5:c.66G>A, XM_005249353.4:c.66G>C, XM_005249353.4:c.66G>A, XM_005249353.3:c.66G>C, XM_005249353.3:c.66G>A, XM_005249353.2:c.66G>C, XM_005249353.2:c.66G>A, XM_005249353.1:c.66G>C, XM_005249353.1:c.66G>A, XM_005249351.4:c.66G>C, XM_005249351.4:c.66G>A, XM_005249351.3:c.66G>C, XM_005249351.3:c.66G>A, XM_005249351.2:c.66G>C, XM_005249351.2:c.66G>A, XM_005249351.1:c.66G>C, XM_005249351.1:c.66G>A, NM_003296.4:c.66G>C, NM_003296.4:c.66G>A, NM_003296.3:c.66G>C, NM_003296.3:c.66G>A, XR_926302.4:n.285G>C, XR_926302.4:n.285G>A, XR_926302.3:n.267G>C, XR_926302.3:n.267G>A, XR_926302.2:n.311G>C, XR_926302.2:n.311G>A, XR_926302.1:n.311G>C, XR_926302.1:n.311G>A, XM_011514843.4:c.66G>C, XM_011514843.4:c.66G>A, XM_011514843.3:c.66G>C, XM_011514843.3:c.66G>A, XM_011514843.2:c.66G>C, XM_011514843.2:c.66G>A, XM_011514843.1:c.66G>C, XM_011514843.1:c.66G>A, NM_001142408.3:c.66G>C, NM_001142408.3:c.66G>A, NM_001142408.2:c.66G>C, NM_001142408.2:c.66G>A, NM_001142417.3:c.66G>C, NM_001142417.3:c.66G>A, NM_001142417.2:c.66G>C, NM_001142417.2:c.66G>A, NM_001142435.3:c.66G>C, NM_001142435.3:c.66G>A, NM_001142435.2:c.66G>C, NM_001142435.2:c.66G>A, NM_001142407.3:c.66G>C, NM_001142407.3:c.66G>A, NM_001142407.2:c.66G>C, NM_001142407.2:c.66G>A, XM_011514841.2:c.66G>C, XM_011514841.2:c.66G>A, XM_011514841.1:c.66G>C, XM_011514841.1:c.66G>A, XM_005249356.2:c.66G>C, XM_005249356.2:c.66G>A, XM_005249356.1:c.66G>C, XM_005249356.1:c.66G>A, XM_005249349.2:c.66G>C, XM_005249349.2:c.66G>A, XM_005249349.1:c.66G>C, XM_005249349.1:c.66G>A, NM_001261822.2:c.66G>C, NM_001261822.2:c.66G>A, NM_001261822.1:c.66G>C, NM_001261822.1:c.66G>A, XM_047419292.1:c.66G>C, XM_047419292.1:c.66G>A, XM_047419293.1:c.66G>C, XM_047419293.1:c.66G>A, XP_005249410.1:p.Lys22Asn, XP_005249408.1:p.Lys22Asn, NP_003287.1:p.Lys22Asn, XP_011513145.1:p.Lys22Asn, NP_001135880.1:p.Lys22Asn, NP_001135889.1:p.Lys22Asn, NP_001135907.1:p.Lys22Asn, NP_001135879.1:p.Lys22Asn, XP_011513143.1:p.Lys22Asn, XP_005249413.1:p.Lys22Asn, XP_005249406.1:p.Lys22Asn, NP_001248751.1:p.Lys22Asn, XP_047275248.1:p.Lys22Asn, XP_047275249.1:p.Lys22Asn

Select item 144527021513.

rs1445270215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49700770 (GRCh38)
6:49668483 (GRCh37)
Canonical SPDI:: NC_000006.12:49700769:A:G
Gene:: CRISP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49700770A>G, NC_000006.11:g.49668483A>G, XM_005249353.5:c.81T>C, XM_005249353.4:c.81T>C, XM_005249353.3:c.81T>C, XM_005249353.2:c.81T>C, XM_005249353.1:c.81T>C, XM_005249351.4:c.81T>C, XM_005249351.3:c.81T>C, XM_005249351.2:c.81T>C, XM_005249351.1:c.81T>C, NM_003296.4:c.81T>C, NM_003296.3:c.81T>C, XR_926302.4:n.300T>C, XR_926302.3:n.282T>C, XR_926302.2:n.326T>C, XR_926302.1:n.326T>C, XM_011514843.4:c.81T>C, XM_011514843.3:c.81T>C, XM_011514843.2:c.81T>C, XM_011514843.1:c.81T>C, NM_001142408.3:c.81T>C, NM_001142408.2:c.81T>C, NM_001142417.3:c.81T>C, NM_001142417.2:c.81T>C, NM_001142435.3:c.81T>C, NM_001142435.2:c.81T>C, NM_001142407.3:c.81T>C, NM_001142407.2:c.81T>C, XM_011514841.2:c.81T>C, XM_011514841.1:c.81T>C, XM_005249356.2:c.81T>C, XM_005249356.1:c.81T>C, XM_005249349.2:c.81T>C, XM_005249349.1:c.81T>C, NM_001261822.2:c.81T>C, NM_001261822.1:c.81T>C, XM_047419292.1:c.81T>C, XM_047419293.1:c.81T>C

Select item 144384103614.

rs1443841036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49700669 (GRCh38)
6:49668382 (GRCh37)
Canonical SPDI:: NC_000006.12:49700668:A:G
Gene:: CRISP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.49700669A>G, NC_000006.11:g.49668382A>G, XM_005249353.5:c.182T>C, XM_005249353.4:c.182T>C, XM_005249353.3:c.182T>C, XM_005249353.2:c.182T>C, XM_005249353.1:c.182T>C, XM_005249351.4:c.182T>C, XM_005249351.3:c.182T>C, XM_005249351.2:c.182T>C, XM_005249351.1:c.182T>C, NM_003296.4:c.182T>C, NM_003296.3:c.182T>C, XR_926302.4:n.401T>C, XR_926302.3:n.383T>C, XR_926302.2:n.427T>C, XR_926302.1:n.427T>C, XM_011514843.4:c.182T>C, XM_011514843.3:c.182T>C, XM_011514843.2:c.182T>C, XM_011514843.1:c.182T>C, NM_001142408.3:c.182T>C, NM_001142408.2:c.182T>C, NM_001142417.3:c.182T>C, NM_001142417.2:c.182T>C, NM_001142435.3:c.182T>C, NM_001142435.2:c.182T>C, NM_001142407.3:c.182T>C, NM_001142407.2:c.182T>C, XM_011514841.2:c.182T>C, XM_011514841.1:c.182T>C, XM_005249356.2:c.182T>C, XM_005249356.1:c.182T>C, XM_005249349.2:c.182T>C, XM_005249349.1:c.182T>C, NM_001261822.2:c.182T>C, NM_001261822.1:c.182T>C, XM_047419292.1:c.182T>C, XM_047419293.1:c.182T>C, XP_005249410.1:p.Met61Thr, XP_005249408.1:p.Met61Thr, NP_003287.1:p.Met61Thr, XP_011513145.1:p.Met61Thr, NP_001135880.1:p.Met61Thr, NP_001135889.1:p.Met61Thr, NP_001135907.1:p.Met61Thr, NP_001135879.1:p.Met61Thr, XP_011513143.1:p.Met61Thr, XP_005249413.1:p.Met61Thr, XP_005249406.1:p.Met61Thr, NP_001248751.1:p.Met61Thr, XP_047275248.1:p.Met61Thr, XP_047275249.1:p.Met61Thr

Select item 144174943115.

rs1441749431 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:49692864 (GRCh38)
6:49660577 (GRCh37)
Canonical SPDI:: NC_000006.12:49692861:CACA:CA
Gene:: CRISP2 (Varview)
Functional Consequence:: inframe_indel,intron_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49692862CA[1], NC_000006.11:g.49660575CA[1], XM_005249353.5:c.747_748del, XM_005249353.4:c.747_748del, XM_005249353.3:c.747_748del, XM_005249353.2:c.747_748del, XM_005249353.1:c.747_748del, XM_005249351.4:c.747_748del, XM_005249351.3:c.747_748del, XM_005249351.2:c.747_748del, XM_005249351.1:c.747_748del, NM_003296.4:c.642_643del, NM_003296.3:c.642_643del, NM_001142408.3:c.642_643del, NM_001142408.2:c.642_643del, NM_001142417.3:c.642_643del, NM_001142417.2:c.642_643del, NM_001142435.3:c.642_643del, NM_001142435.2:c.642_643del, NM_001142407.3:c.642_643del, NM_001142407.2:c.642_643del, XM_011514841.2:c.747_748del, XM_011514841.1:c.747_748del, XM_005249356.2:c.747_748del, XM_005249356.1:c.747_748del, XM_005249349.2:c.747_748del, XM_005249349.1:c.747_748del, NM_001261822.2:c.642_643del, NM_001261822.1:c.642_643del, XP_005249410.1:p.Cys249_Asp250delinsTer, XP_005249408.1:p.Cys249_Asp250delinsTer, NP_003287.1:p.Cys214_Asp215delinsTer, NP_001135880.1:p.Cys214_Asp215delinsTer, NP_001135889.1:p.Cys214_Asp215delinsTer, NP_001135907.1:p.Cys214_Asp215delinsTer, NP_001135879.1:p.Cys214_Asp215delinsTer, XP_011513143.1:p.Cys249_Asp250delinsTer, XP_005249413.1:p.Cys249_Asp250delinsTer, XP_005249406.1:p.Cys249_Asp250delinsTer, NP_001248751.1:p.Cys214_Asp215delinsTer

Select item 144100407716.

rs1441004077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49700763 (GRCh38)
6:49668476 (GRCh37)
Canonical SPDI:: NC_000006.12:49700762:A:G
Gene:: CRISP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49700763A>G, NC_000006.11:g.49668476A>G, XM_005249353.5:c.88T>C, XM_005249353.4:c.88T>C, XM_005249353.3:c.88T>C, XM_005249353.2:c.88T>C, XM_005249353.1:c.88T>C, XM_005249351.4:c.88T>C, XM_005249351.3:c.88T>C, XM_005249351.2:c.88T>C, XM_005249351.1:c.88T>C, NM_003296.4:c.88T>C, NM_003296.3:c.88T>C, XR_926302.4:n.307T>C, XR_926302.3:n.289T>C, XR_926302.2:n.333T>C, XR_926302.1:n.333T>C, XM_011514843.4:c.88T>C, XM_011514843.3:c.88T>C, XM_011514843.2:c.88T>C, XM_011514843.1:c.88T>C, NM_001142408.3:c.88T>C, NM_001142408.2:c.88T>C, NM_001142417.3:c.88T>C, NM_001142417.2:c.88T>C, NM_001142435.3:c.88T>C, NM_001142435.2:c.88T>C, NM_001142407.3:c.88T>C, NM_001142407.2:c.88T>C, XM_011514841.2:c.88T>C, XM_011514841.1:c.88T>C, XM_005249356.2:c.88T>C, XM_005249356.1:c.88T>C, XM_005249349.2:c.88T>C, XM_005249349.1:c.88T>C, NM_001261822.2:c.88T>C, NM_001261822.1:c.88T>C, XM_047419292.1:c.88T>C, XM_047419293.1:c.88T>C

Select item 142748096117.

rs1427480961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49695842 (GRCh38)
6:49663555 (GRCh37)
Canonical SPDI:: NC_000006.12:49695841:G:A
Gene:: CRISP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49695842G>A, NC_000006.11:g.49663555G>A, XM_005249353.5:c.703C>T, XM_005249353.4:c.703C>T, XM_005249353.3:c.703C>T, XM_005249353.2:c.703C>T, XM_005249353.1:c.703C>T, XM_005249351.4:c.703C>T, XM_005249351.3:c.703C>T, XM_005249351.2:c.703C>T, XM_005249351.1:c.703C>T, NM_003296.4:c.598C>T, NM_003296.3:c.598C>T, XR_926302.4:n.922C>T, XR_926302.3:n.904C>T, XR_926302.2:n.948C>T, XR_926302.1:n.948C>T, XM_011514843.4:c.703C>T, XM_011514843.3:c.703C>T, XM_011514843.2:c.703C>T, XM_011514843.1:c.703C>T, NM_001142408.3:c.598C>T, NM_001142408.2:c.598C>T, NM_001142417.3:c.598C>T, NM_001142417.2:c.598C>T, NM_001142435.3:c.598C>T, NM_001142435.2:c.598C>T, NM_001142407.3:c.598C>T, NM_001142407.2:c.598C>T, XM_011514841.2:c.703C>T, XM_011514841.1:c.703C>T, XM_005249356.2:c.703C>T, XM_005249356.1:c.703C>T, XM_005249349.2:c.703C>T, XM_005249349.1:c.703C>T, NM_001261822.2:c.598C>T, NM_001261822.1:c.598C>T

Select item 142580492618.

rs1425804926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:49697925 (GRCh38)
6:49665638 (GRCh37)
Canonical SPDI:: NC_000006.12:49697924:A:G,NC_000006.12:49697924:A:T
Gene:: CRISP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000108/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000006.12:g.49697925A>G, NC_000006.12:g.49697925A>T, NC_000006.11:g.49665638A>G, NC_000006.11:g.49665638A>T, XM_005249353.5:c.450T>C, XM_005249353.5:c.450T>A, XM_005249353.4:c.450T>C, XM_005249353.4:c.450T>A, XM_005249353.3:c.450T>C, XM_005249353.3:c.450T>A, XM_005249353.2:c.450T>C, XM_005249353.2:c.450T>A, XM_005249353.1:c.450T>C, XM_005249353.1:c.450T>A, XM_005249351.4:c.450T>C, XM_005249351.4:c.450T>A, XM_005249351.3:c.450T>C, XM_005249351.3:c.450T>A, XM_005249351.2:c.450T>C, XM_005249351.2:c.450T>A, XM_005249351.1:c.450T>C, XM_005249351.1:c.450T>A, NM_003296.4:c.450T>C, NM_003296.4:c.450T>A, NM_003296.3:c.450T>C, NM_003296.3:c.450T>A, XR_926302.4:n.669T>C, XR_926302.4:n.669T>A, XR_926302.3:n.651T>C, XR_926302.3:n.651T>A, XR_926302.2:n.695T>C, XR_926302.2:n.695T>A, XR_926302.1:n.695T>C, XR_926302.1:n.695T>A, XM_011514843.4:c.450T>C, XM_011514843.4:c.450T>A, XM_011514843.3:c.450T>C, XM_011514843.3:c.450T>A, XM_011514843.2:c.450T>C, XM_011514843.2:c.450T>A, XM_011514843.1:c.450T>C, XM_011514843.1:c.450T>A, NM_001142408.3:c.450T>C, NM_001142408.3:c.450T>A, NM_001142408.2:c.450T>C, NM_001142408.2:c.450T>A, NM_001142417.3:c.450T>C, NM_001142417.3:c.450T>A, NM_001142417.2:c.450T>C, NM_001142417.2:c.450T>A, NM_001142435.3:c.450T>C, NM_001142435.3:c.450T>A, NM_001142435.2:c.450T>C, NM_001142435.2:c.450T>A, NM_001142407.3:c.450T>C, NM_001142407.3:c.450T>A, NM_001142407.2:c.450T>C, NM_001142407.2:c.450T>A, XM_011514841.2:c.450T>C, XM_011514841.2:c.450T>A, XM_011514841.1:c.450T>C, XM_011514841.1:c.450T>A, XM_005249356.2:c.450T>C, XM_005249356.2:c.450T>A, XM_005249356.1:c.450T>C, XM_005249356.1:c.450T>A, XM_005249349.2:c.450T>C, XM_005249349.2:c.450T>A, XM_005249349.1:c.450T>C, XM_005249349.1:c.450T>A, NM_001261822.2:c.450T>C, NM_001261822.2:c.450T>A, NM_001261822.1:c.450T>C, NM_001261822.1:c.450T>A, XP_005249410.1:p.Cys150Ter, XP_005249408.1:p.Cys150Ter, NP_003287.1:p.Cys150Ter, XP_011513145.1:p.Cys150Ter, NP_001135880.1:p.Cys150Ter, NP_001135889.1:p.Cys150Ter, NP_001135907.1:p.Cys150Ter, NP_001135879.1:p.Cys150Ter, XP_011513143.1:p.Cys150Ter, XP_005249413.1:p.Cys150Ter, XP_005249406.1:p.Cys150Ter, NP_001248751.1:p.Cys150Ter

Select item 142548357719.

rs1425483577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:49695873 (GRCh38)
6:49663586 (GRCh37)
Canonical SPDI:: NC_000006.12:49695872:A:T
Gene:: CRISP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49695873A>T, NC_000006.11:g.49663586A>T, XM_005249353.5:c.672T>A, XM_005249353.4:c.672T>A, XM_005249353.3:c.672T>A, XM_005249353.2:c.672T>A, XM_005249353.1:c.672T>A, XM_005249351.4:c.672T>A, XM_005249351.3:c.672T>A, XM_005249351.2:c.672T>A, XM_005249351.1:c.672T>A, NM_003296.4:c.567T>A, NM_003296.3:c.567T>A, XR_926302.4:n.891T>A, XR_926302.3:n.873T>A, XR_926302.2:n.917T>A, XR_926302.1:n.917T>A, XM_011514843.4:c.672T>A, XM_011514843.3:c.672T>A, XM_011514843.2:c.672T>A, XM_011514843.1:c.672T>A, NM_001142408.3:c.567T>A, NM_001142408.2:c.567T>A, NM_001142417.3:c.567T>A, NM_001142417.2:c.567T>A, NM_001142435.3:c.567T>A, NM_001142435.2:c.567T>A, NM_001142407.3:c.567T>A, NM_001142407.2:c.567T>A, XM_011514841.2:c.672T>A, XM_011514841.1:c.672T>A, XM_005249356.2:c.672T>A, XM_005249356.1:c.672T>A, XM_005249349.2:c.672T>A, XM_005249349.1:c.672T>A, NM_001261822.2:c.567T>A, NM_001261822.1:c.567T>A, XP_005249410.1:p.Cys224Ter, XP_005249408.1:p.Cys224Ter, NP_003287.1:p.Cys189Ter, XP_011513145.1:p.Cys224Ter, NP_001135880.1:p.Cys189Ter, NP_001135889.1:p.Cys189Ter, NP_001135907.1:p.Cys189Ter, NP_001135879.1:p.Cys189Ter, XP_011513143.1:p.Cys224Ter, XP_005249413.1:p.Cys224Ter, XP_005249406.1:p.Cys224Ter, NP_001248751.1:p.Cys189Ter

Select item 142410847420.

rs1424108474 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTA>- [Show Flanks]
Chromosome:: 6:49692870 (GRCh38)
6:49660583 (GRCh37)
Canonical SPDI:: NC_000006.12:49692866:TTACTTA:TTA
Gene:: CRISP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.49692870_49692873del, NC_000006.11:g.49660583_49660586del, XM_005249353.5:c.740_743del, XM_005249353.4:c.740_743del, XM_005249353.3:c.740_743del, XM_005249353.2:c.740_743del, XM_005249353.1:c.740_743del, XM_005249351.4:c.740_743del, XM_005249351.3:c.740_743del, XM_005249351.2:c.740_743del, XM_005249351.1:c.740_743del, NM_003296.4:c.635_638del, NM_003296.3:c.635_638del, NM_001142408.3:c.635_638del, NM_001142408.2:c.635_638del, NM_001142417.3:c.635_638del, NM_001142417.2:c.635_638del, NM_001142435.3:c.635_638del, NM_001142435.2:c.635_638del, NM_001142407.3:c.635_638del, NM_001142407.2:c.635_638del, XM_011514841.2:c.740_743del, XM_011514841.1:c.740_743del, XM_005249356.2:c.740_743del, XM_005249356.1:c.740_743del, XM_005249349.2:c.740_743del, XM_005249349.1:c.740_743del, NM_001261822.2:c.635_638del, NM_001261822.1:c.635_638del, XP_005249410.1:p.Ser247fs, XP_005249408.1:p.Ser247fs, NP_003287.1:p.Ser212fs, NP_001135880.1:p.Ser212fs, NP_001135889.1:p.Ser212fs, NP_001135907.1:p.Ser212fs, NP_001135879.1:p.Ser212fs, XP_011513143.1:p.Ser247fs, XP_005249413.1:p.Ser247fs, XP_005249406.1:p.Ser247fs, NP_001248751.1:p.Ser212fs

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