SNP Links for Protein (Select 45238854) - SNP

Links from Protein

Items: 1 to 20 of 287

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Select item 14906599621.

rs1490659962 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:64989802 (GRCh38)
11:64757274 (GRCh37)
Canonical SPDI:: NC_000011.10:64989798:AGAGA:AGA
Gene:: BATF2 (Varview)
Functional Consequence:: frameshift_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.64989800GA[1], NC_000011.9:g.64757272GA[1], NM_138456.4:c.154_155del, NM_138456.3:c.154_155del, NM_001300807.2:c.82_83del, NM_001300807.1:c.82_83del, NM_001300808.2:c.-104CT[1], NM_001300808.1:c.-104CT[1], NP_612465.3:p.Leu52fs, NP_001287736.1:p.Leu28fs

Select item 14895839942.

rs1489583994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:64989383 (GRCh38)
11:64756855 (GRCh37)
Canonical SPDI:: NC_000011.10:64989382:T:C
Gene:: BATF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64989383T>C, NC_000011.9:g.64756855T>C, NM_138456.4:c.571A>G, NM_138456.3:c.571A>G, NM_001300807.2:c.499A>G, NM_001300807.1:c.499A>G, NM_001300808.2:c.316A>G, NM_001300808.1:c.316A>G, NP_612465.3:p.Lys191Glu, NP_001287736.1:p.Lys167Glu, NP_001287737.1:p.Lys106Glu

Select item 14870125673.

rs1487012567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64994530 (GRCh38)
11:64762002 (GRCh37)
Canonical SPDI:: NC_000011.10:64994529:C:T
Gene:: BATF2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64994530C>T, NC_000011.9:g.64762002C>T, NM_138456.4:c.59G>A, NM_138456.3:c.59G>A, NP_612465.3:p.Arg20Lys

Select item 14863830924.

rs1486383092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:64994455 (GRCh38)
11:64761927 (GRCh37)
Canonical SPDI:: NC_000011.10:64994454:A:G
Gene:: BATF2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.64994455A>G, NC_000011.9:g.64761927A>G, NM_138456.4:c.134T>C, NM_138456.3:c.134T>C, NP_612465.3:p.Leu45Pro

Select item 14807855125.

rs1480785512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64994462 (GRCh38)
11:64761934 (GRCh37)
Canonical SPDI:: NC_000011.10:64994461:C:T
Gene:: BATF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64994462C>T, NC_000011.9:g.64761934C>T, NM_138456.4:c.127G>A, NM_138456.3:c.127G>A, NP_612465.3:p.Asp43Asn

Select item 14755921206.

rs1475592120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64989758 (GRCh38)
11:64757230 (GRCh37)
Canonical SPDI:: NC_000011.10:64989757:G:A
Gene:: BATF2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64989758G>A, NC_000011.9:g.64757230G>A, NM_138456.4:c.196C>T, NM_138456.3:c.196C>T, NM_001300807.2:c.124C>T, NM_001300807.1:c.124C>T, NM_001300808.2:c.-60C>T, NM_001300808.1:c.-60C>T

Select item 14731280107.

rs1473128010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:64989559 (GRCh38)
11:64757031 (GRCh37)
Canonical SPDI:: NC_000011.10:64989558:G:C
Gene:: BATF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.64989559G>C, NC_000011.9:g.64757031G>C, NM_138456.4:c.395C>G, NM_138456.3:c.395C>G, NM_001300807.2:c.323C>G, NM_001300807.1:c.323C>G, NM_001300808.2:c.140C>G, NM_001300808.1:c.140C>G, NP_612465.3:p.Pro132Arg, NP_001287736.1:p.Pro108Arg, NP_001287737.1:p.Pro47Arg

Select item 14716900368.

rs1471690036 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:64996898 (GRCh38)
11:64764370 (GRCh37)
Canonical SPDI:: NC_000011.10:64996897:CCCCC:CCCC
Gene:: BATF2 (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.64996902del, NC_000011.9:g.64764374del, NM_138456.4:c.17del, NM_138456.3:c.17del, NP_612465.3:p.Gly6fs

Select item 14663878089.

rs1466387808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:64989226 (GRCh38)
11:64756698 (GRCh37)
Canonical SPDI:: NC_000011.10:64989225:G:A,NC_000011.10:64989225:G:C
Gene:: BATF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.64989226G>A, NC_000011.10:g.64989226G>C, NC_000011.9:g.64756698G>A, NC_000011.9:g.64756698G>C, NM_138456.4:c.728C>T, NM_138456.4:c.728C>G, NM_138456.3:c.728C>T, NM_138456.3:c.728C>G, NM_001300807.2:c.656C>T, NM_001300807.2:c.656C>G, NM_001300807.1:c.656C>T, NM_001300807.1:c.656C>G, NM_001300808.2:c.473C>T, NM_001300808.2:c.473C>G, NM_001300808.1:c.473C>T, NM_001300808.1:c.473C>G, NP_612465.3:p.Ala243Val, NP_612465.3:p.Ala243Gly, NP_001287736.1:p.Ala219Val, NP_001287736.1:p.Ala219Gly, NP_001287737.1:p.Ala158Val, NP_001287737.1:p.Ala158Gly

Select item 146491805410.

rs1464918054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64994547 (GRCh38)
11:64762019 (GRCh37)
Canonical SPDI:: NC_000011.10:64994546:G:A
Gene:: BATF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.64994547G>A, NC_000011.9:g.64762019G>A, NM_138456.4:c.42C>T, NM_138456.3:c.42C>T

Select item 145760564211.

rs1457605642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64994517 (GRCh38)
11:64761989 (GRCh37)
Canonical SPDI:: NC_000011.10:64994516:C:T
Gene:: BATF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64994517C>T, NC_000011.9:g.64761989C>T, NM_138456.4:c.72G>A, NM_138456.3:c.72G>A

Select item 145368735212.

rs1453687352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:64989296 (GRCh38)
11:64756768 (GRCh37)
Canonical SPDI:: NC_000011.10:64989295:C:A,NC_000011.10:64989295:C:G,NC_000011.10:64989295:C:T
Gene:: BATF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64989296C>A, NC_000011.10:g.64989296C>G, NC_000011.10:g.64989296C>T, NC_000011.9:g.64756768C>A, NC_000011.9:g.64756768C>G, NC_000011.9:g.64756768C>T, NM_138456.4:c.658G>T, NM_138456.4:c.658G>C, NM_138456.4:c.658G>A, NM_138456.3:c.658G>T, NM_138456.3:c.658G>C, NM_138456.3:c.658G>A, NM_001300807.2:c.586G>T, NM_001300807.2:c.586G>C, NM_001300807.2:c.586G>A, NM_001300807.1:c.586G>T, NM_001300807.1:c.586G>C, NM_001300807.1:c.586G>A, NM_001300808.2:c.403G>T, NM_001300808.2:c.403G>C, NM_001300808.2:c.403G>A, NM_001300808.1:c.403G>T, NM_001300808.1:c.403G>C, NM_001300808.1:c.403G>A, NP_612465.3:p.Gly220Trp, NP_612465.3:p.Gly220Arg, NP_612465.3:p.Gly220Arg, NP_001287736.1:p.Gly196Trp, NP_001287736.1:p.Gly196Arg, NP_001287736.1:p.Gly196Arg, NP_001287737.1:p.Gly135Trp, NP_001287737.1:p.Gly135Arg, NP_001287737.1:p.Gly135Arg

Select item 145318953013.

rs1453189530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:64994529 (GRCh38)
11:64762001 (GRCh37)
Canonical SPDI:: NC_000011.10:64994528:C:A
Gene:: BATF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000011.10:g.64994529C>A, NC_000011.9:g.64762001C>A, NM_138456.4:c.60G>T, NM_138456.3:c.60G>T, NP_612465.3:p.Arg20Ser

Select item 144976979514.

rs1449769795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:64989502 (GRCh38)
11:64756974 (GRCh37)
Canonical SPDI:: NC_000011.10:64989501:C:G,NC_000011.10:64989501:C:T
Gene:: BATF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64989502C>G, NC_000011.10:g.64989502C>T, NC_000011.9:g.64756974C>G, NC_000011.9:g.64756974C>T, NM_138456.4:c.452G>C, NM_138456.4:c.452G>A, NM_138456.3:c.452G>C, NM_138456.3:c.452G>A, NM_001300807.2:c.380G>C, NM_001300807.2:c.380G>A, NM_001300807.1:c.380G>C, NM_001300807.1:c.380G>A, NM_001300808.2:c.197G>C, NM_001300808.2:c.197G>A, NM_001300808.1:c.197G>C, NM_001300808.1:c.197G>A, NP_612465.3:p.Cys151Ser, NP_612465.3:p.Cys151Tyr, NP_001287736.1:p.Cys127Ser, NP_001287736.1:p.Cys127Tyr, NP_001287737.1:p.Cys66Ser, NP_001287737.1:p.Cys66Tyr

Select item 144590935315.

rs1445909353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64994497 (GRCh38)
11:64761969 (GRCh37)
Canonical SPDI:: NC_000011.10:64994496:G:A
Gene:: BATF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000011.10:g.64994497G>A, NC_000011.9:g.64761969G>A, NM_138456.4:c.92C>T, NM_138456.3:c.92C>T, NP_612465.3:p.Ala31Val

Select item 143753753416.

rs1437537534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64989629 (GRCh38)
11:64757101 (GRCh37)
Canonical SPDI:: NC_000011.10:64989628:G:A
Gene:: BATF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.64989629G>A, NC_000011.9:g.64757101G>A, NM_138456.4:c.325C>T, NM_138456.3:c.325C>T, NM_001300807.2:c.253C>T, NM_001300807.1:c.253C>T, NM_001300808.2:c.70C>T, NM_001300808.1:c.70C>T, NP_612465.3:p.Pro109Ser, NP_001287736.1:p.Pro85Ser, NP_001287737.1:p.Pro24Ser

Select item 143683552417.

rs1436835524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:64989672 (GRCh38)
11:64757144 (GRCh37)
Canonical SPDI:: NC_000011.10:64989671:T:C
Gene:: BATF2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.64989672T>C, NC_000011.9:g.64757144T>C, NM_138456.4:c.282A>G, NM_138456.3:c.282A>G, NM_001300807.2:c.210A>G, NM_001300807.1:c.210A>G, NM_001300808.2:c.27A>G, NM_001300808.1:c.27A>G

Select item 142672670918.

rs1426726709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:64989400 (GRCh38)
11:64756872 (GRCh37)
Canonical SPDI:: NC_000011.10:64989399:A:G
Gene:: BATF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64989400A>G, NC_000011.9:g.64756872A>G, NM_138456.4:c.554T>C, NM_138456.3:c.554T>C, NM_001300807.2:c.482T>C, NM_001300807.1:c.482T>C, NM_001300808.2:c.299T>C, NM_001300808.1:c.299T>C, NP_612465.3:p.Leu185Pro, NP_001287736.1:p.Leu161Pro, NP_001287737.1:p.Leu100Pro

Select item 142327828319.

rs1423278283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64989202 (GRCh38)
11:64756674 (GRCh37)
Canonical SPDI:: NC_000011.10:64989201:C:T
Gene:: BATF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.64989202C>T, NC_000011.9:g.64756674C>T, NM_138456.4:c.752G>A, NM_138456.3:c.752G>A, NM_001300807.2:c.680G>A, NM_001300807.1:c.680G>A, NM_001300808.2:c.497G>A, NM_001300808.1:c.497G>A, NP_612465.3:p.Gly251Glu, NP_001287736.1:p.Gly227Glu, NP_001287737.1:p.Gly166Glu

Select item 141752291820.

rs1417522918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:64989221 (GRCh38)
11:64756693 (GRCh37)
Canonical SPDI:: NC_000011.10:64989220:A:G
Gene:: BATF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64989221A>G, NC_000011.9:g.64756693A>G, NM_138456.4:c.733T>C, NM_138456.3:c.733T>C, NM_001300807.2:c.661T>C, NM_001300807.1:c.661T>C, NM_001300808.2:c.478T>C, NM_001300808.1:c.478T>C, NP_612465.3:p.Ser245Pro, NP_001287736.1:p.Ser221Pro, NP_001287737.1:p.Ser160Pro

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