SNP Links for Protein (Select 14589849) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49206796 (GRCh38)
17:47284158 (GRCh37)
Canonical SPDI:: NC_000017.11:49206795:C:T
Gene:: GNGT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.49206796C>T, NC_000017.10:g.47284158C>T, NG_009841.1:g.7586G>A, NM_031498.2:c.171G>A, NM_001198754.2:c.171G>A, NM_001198754.1:c.171G>A, NM_001198755.1:c.171G>A, NM_001198756.1:c.171G>A

Select item 12930895169.

rs1293089516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:49206810 (GRCh38)
17:47284172 (GRCh37)
Canonical SPDI:: NC_000017.11:49206809:T:A
Gene:: GNGT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49206810T>A, NC_000017.10:g.47284172T>A, NG_009841.1:g.7572A>T, NM_031498.2:c.157A>T, NM_001198754.2:c.157A>T, NM_001198754.1:c.157A>T, NM_001198755.1:c.157A>T, NM_001198756.1:c.157A>T, NP_113686.1:p.Ile53Phe, NP_001185683.1:p.Ile53Phe, NP_001185684.1:p.Ile53Phe, NP_001185685.1:p.Ile53Phe

Select item 125786720210.

rs1257867202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:49206825 (GRCh38)
17:47284187 (GRCh37)
Canonical SPDI:: NC_000017.11:49206824:G:A,NC_000017.11:49206824:G:T
Gene:: GNGT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49206825G>A, NC_000017.11:g.49206825G>T, NC_000017.10:g.47284187G>A, NC_000017.10:g.47284187G>T, NG_009841.1:g.7557C>T, NG_009841.1:g.7557C>A, NM_031498.2:c.142C>T, NM_031498.2:c.142C>A, NM_001198754.2:c.142C>T, NM_001198754.2:c.142C>A, NM_001198754.1:c.142C>T, NM_001198754.1:c.142C>A, NM_001198755.1:c.142C>T, NM_001198755.1:c.142C>A, NM_001198756.1:c.142C>T, NM_001198756.1:c.142C>A, NP_113686.1:p.Pro48Ser, NP_113686.1:p.Pro48Thr, NP_001185683.1:p.Pro48Ser, NP_001185683.1:p.Pro48Thr, NP_001185684.1:p.Pro48Ser, NP_001185684.1:p.Pro48Thr, NP_001185685.1:p.Pro48Ser, NP_001185685.1:p.Pro48Thr

Select item 124052823611.

rs1240528236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49207358 (GRCh38)
17:47284720 (GRCh37)
Canonical SPDI:: NC_000017.11:49207357:A:G
Gene:: GNGT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.49207358A>G, NC_000017.10:g.47284720A>G, NG_009841.1:g.7024T>C, NM_031498.2:c.65T>C, NM_001198754.2:c.65T>C, NM_001198754.1:c.65T>C, NM_001198755.1:c.65T>C, NM_001198756.1:c.65T>C, NP_113686.1:p.Val22Ala, NP_001185683.1:p.Val22Ala, NP_001185684.1:p.Val22Ala, NP_001185685.1:p.Val22Ala

Select item 121384430912.

rs1213844309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49206876 (GRCh38)
17:47284238 (GRCh37)
Canonical SPDI:: NC_000017.11:49206875:T:C
Gene:: GNGT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49206876T>C, NC_000017.10:g.47284238T>C, NG_009841.1:g.7506A>G, NM_031498.2:c.91A>G, NM_001198754.2:c.91A>G, NM_001198754.1:c.91A>G, NM_001198755.1:c.91A>G, NM_001198756.1:c.91A>G, NP_113686.1:p.Lys31Glu, NP_001185683.1:p.Lys31Glu, NP_001185684.1:p.Lys31Glu, NP_001185685.1:p.Lys31Glu

Select item 121322010213.

rs1213220102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:49207372 (GRCh38)
17:47284734 (GRCh37)
Canonical SPDI:: NC_000017.11:49207371:C:A
Gene:: GNGT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.49207372C>A, NC_000017.10:g.47284734C>A, NG_009841.1:g.7010G>T, NM_031498.2:c.51G>T, NM_001198754.2:c.51G>T, NM_001198754.1:c.51G>T, NM_001198755.1:c.51G>T, NM_001198756.1:c.51G>T, NP_113686.1:p.Gln17His, NP_001185683.1:p.Gln17His, NP_001185684.1:p.Gln17His, NP_001185685.1:p.Gln17His

Select item 120169294314.

rs1201692943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49206860 (GRCh38)
17:47284222 (GRCh37)
Canonical SPDI:: NC_000017.11:49206859:A:G
Gene:: GNGT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.49206860A>G, NC_000017.10:g.47284222A>G, NG_009841.1:g.7522T>C, NM_031498.2:c.107T>C, NM_001198754.2:c.107T>C, NM_001198754.1:c.107T>C, NM_001198755.1:c.107T>C, NM_001198756.1:c.107T>C, NP_113686.1:p.Ile36Thr, NP_001185683.1:p.Ile36Thr, NP_001185684.1:p.Ile36Thr, NP_001185685.1:p.Ile36Thr

Select item 119905720215.

rs1199057202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:49206853 (GRCh38)
17:47284215 (GRCh37)
Canonical SPDI:: NC_000017.11:49206852:C:A
Gene:: GNGT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49206853C>A, NC_000017.10:g.47284215C>A, NG_009841.1:g.7529G>T, NM_031498.2:c.114G>T, NM_001198754.2:c.114G>T, NM_001198754.1:c.114G>T, NM_001198755.1:c.114G>T, NM_001198756.1:c.114G>T, NP_113686.1:p.Glu38Asp, NP_001185683.1:p.Glu38Asp, NP_001185684.1:p.Glu38Asp, NP_001185685.1:p.Glu38Asp

Select item 119411201316.

rs1194112013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49207343 (GRCh38)
17:47284705 (GRCh37)
Canonical SPDI:: NC_000017.11:49207342:A:G
Gene:: GNGT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49207343A>G, NC_000017.10:g.47284705A>G, NG_009841.1:g.7039T>C, NM_031498.2:c.80T>C, NM_001198754.2:c.80T>C, NM_001198754.1:c.80T>C, NM_001198755.1:c.80T>C, NM_001198756.1:c.80T>C, NP_113686.1:p.Ile27Thr, NP_001185683.1:p.Ile27Thr, NP_001185684.1:p.Ile27Thr, NP_001185685.1:p.Ile27Thr

Select item 117491123917.

rs1174911239 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:49207363 (GRCh38)
17:47284725 (GRCh37)
Canonical SPDI:: NC_000017.11:49207362:TTT:TT
Gene:: GNGT2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49207365del, NC_000017.10:g.47284727del, NG_009841.1:g.7019del, NM_031498.2:c.60del, NM_001198754.2:c.60del, NM_001198754.1:c.60del, NM_001198755.1:c.60del, NM_001198756.1:c.60del, NP_113686.1:p.Glu21fs, NP_001185683.1:p.Glu21fs, NP_001185684.1:p.Glu21fs, NP_001185685.1:p.Glu21fs

Select item 117246900718.

rs1172469007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49206872 (GRCh38)
17:47284234 (GRCh37)
Canonical SPDI:: NC_000017.11:49206871:G:A
Gene:: GNGT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.49206872G>A, NC_000017.10:g.47284234G>A, NG_009841.1:g.7510C>T, NM_031498.2:c.95C>T, NM_001198754.2:c.95C>T, NM_001198754.1:c.95C>T, NM_001198755.1:c.95C>T, NM_001198756.1:c.95C>T, NP_113686.1:p.Ala32Val, NP_001185683.1:p.Ala32Val, NP_001185684.1:p.Ala32Val, NP_001185685.1:p.Ala32Val

Select item 104026855619.

rs1040268556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49206868 (GRCh38)
17:47284230 (GRCh37)
Canonical SPDI:: NC_000017.11:49206867:T:C
Gene:: GNGT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49206868T>C, NC_000017.10:g.47284230T>C, NG_009841.1:g.7514A>G, NM_031498.2:c.99A>G, NM_001198754.2:c.99A>G, NM_001198754.1:c.99A>G, NM_001198755.1:c.99A>G, NM_001198756.1:c.99A>G

Select item 102068270920.

rs1020682709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:49206832 (GRCh38)
17:47284194 (GRCh37)
Canonical SPDI:: NC_000017.11:49206831:T:G
Gene:: GNGT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000017.11:g.49206832T>G, NC_000017.10:g.47284194T>G, NG_009841.1:g.7550A>C, NM_031498.2:c.135A>C, NM_001198754.2:c.135A>C, NM_001198754.1:c.135A>C, NM_001198755.1:c.135A>C, NM_001198756.1:c.135A>C

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