SNP Links for Protein (Select 385137148) - SNP

Links from Protein

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Select item 14905493851.

rs1490549385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:51432545 (GRCh38)
20:50049082 (GRCh37)
Canonical SPDI:: NC_000020.11:51432544:C:T
Gene:: NFATC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000020.11:g.51432545C>T, NC_000020.10:g.50049082C>T, NM_012340.5:c.2244G>A, NM_012340.4:c.2244G>A, NM_173091.4:c.2244G>A, NM_173091.3:c.2244G>A, XM_011528824.3:c.2244G>A, XM_011528824.2:c.2244G>A, XM_011528824.1:c.2244G>A, XM_011528825.3:c.2184G>A, XM_011528825.2:c.2184G>A, XM_011528825.1:c.2184G>A, XM_011528826.3:c.1587G>A, XM_011528826.2:c.1587G>A, XM_011528826.1:c.1587G>A, NM_001136021.3:c.2184G>A, NM_001136021.2:c.2184G>A, NM_001258292.2:c.2184G>A, NM_001258292.1:c.2184G>A, NM_001258296.2:c.1587G>A, NM_001258296.1:c.1587G>A, NM_001258294.2:c.1587G>A, NM_001258294.1:c.1587G>A, NM_001258297.2:c.1587G>A, NM_001258297.1:c.1587G>A, NM_001258295.2:c.1587G>A, NM_001258295.1:c.1587G>A

Select item 14903688982.

rs1490368898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:51454688 (GRCh38)
20:50071225 (GRCh37)
Canonical SPDI:: NC_000020.11:51454687:G:T
Gene:: NFATC2 (Varview), MIR3194 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.51454688G>T, NC_000020.10:g.50071225G>T, NM_012340.5:c.1709C>A, NM_012340.4:c.1709C>A, NM_173091.4:c.1709C>A, NM_173091.3:c.1709C>A, XM_011528824.3:c.1709C>A, XM_011528824.2:c.1709C>A, XM_011528824.1:c.1709C>A, XM_011528825.3:c.1649C>A, XM_011528825.2:c.1649C>A, XM_011528825.1:c.1649C>A, XM_011528826.3:c.1052C>A, XM_011528826.2:c.1052C>A, XM_011528826.1:c.1052C>A, NM_001136021.3:c.1649C>A, NM_001136021.2:c.1649C>A, NM_001258292.2:c.1649C>A, NM_001258292.1:c.1649C>A, NM_001258296.2:c.1052C>A, NM_001258296.1:c.1052C>A, NM_001258294.2:c.1052C>A, NM_001258294.1:c.1052C>A, NM_001258297.2:c.1052C>A, NM_001258297.1:c.1052C>A, NM_001258295.2:c.1052C>A, NM_001258295.1:c.1052C>A, XM_017027851.2:c.1709C>A, XM_017027851.1:c.1709C>A, NP_036472.2:p.Ser570Tyr, NP_775114.1:p.Ser570Tyr, XP_011527126.1:p.Ser570Tyr, XP_011527127.1:p.Ser550Tyr, XP_011527128.1:p.Ser351Tyr, NP_001129493.1:p.Ser550Tyr, NP_001245221.1:p.Ser550Tyr, NP_001245225.1:p.Ser351Tyr, NP_001245223.1:p.Ser351Tyr, NP_001245226.1:p.Ser351Tyr, NP_001245224.1:p.Ser351Tyr, XP_016883340.1:p.Ser570Tyr

Select item 14889272073.

rs1488927207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:51435719 (GRCh38)
20:50052256 (GRCh37)
Canonical SPDI:: NC_000020.11:51435718:T:C
Gene:: NFATC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.51435719T>C, NC_000020.10:g.50052256T>C, NM_012340.5:c.1892A>G, NM_012340.4:c.1892A>G, NM_173091.4:c.1892A>G, NM_173091.3:c.1892A>G, XM_011528824.3:c.1892A>G, XM_011528824.2:c.1892A>G, XM_011528824.1:c.1892A>G, XM_011528825.3:c.1832A>G, XM_011528825.2:c.1832A>G, XM_011528825.1:c.1832A>G, XM_011528826.3:c.1235A>G, XM_011528826.2:c.1235A>G, XM_011528826.1:c.1235A>G, NM_001136021.3:c.1832A>G, NM_001136021.2:c.1832A>G, NM_001258292.2:c.1832A>G, NM_001258292.1:c.1832A>G, NM_001258296.2:c.1235A>G, NM_001258296.1:c.1235A>G, NM_001258294.2:c.1235A>G, NM_001258294.1:c.1235A>G, NM_001258297.2:c.1235A>G, NM_001258297.1:c.1235A>G, NM_001258295.2:c.1235A>G, NM_001258295.1:c.1235A>G, XM_017027851.2:c.1892A>G, XM_017027851.1:c.1892A>G, NP_036472.2:p.Asp631Gly, NP_775114.1:p.Asp631Gly, XP_011527126.1:p.Asp631Gly, XP_011527127.1:p.Asp611Gly, XP_011527128.1:p.Asp412Gly, NP_001129493.1:p.Asp611Gly, NP_001245221.1:p.Asp611Gly, NP_001245225.1:p.Asp412Gly, NP_001245223.1:p.Asp412Gly, NP_001245226.1:p.Asp412Gly, NP_001245224.1:p.Asp412Gly, XP_016883340.1:p.Asp631Gly

Select item 14868650104.

rs1486865010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:51432468 (GRCh38)
20:50049005 (GRCh37)
Canonical SPDI:: NC_000020.11:51432467:G:A
Gene:: NFATC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.51432468G>A, NC_000020.10:g.50049005G>A, NM_012340.5:c.2321C>T, NM_012340.4:c.2321C>T, NM_173091.4:c.2321C>T, NM_173091.3:c.2321C>T, XM_011528824.3:c.2321C>T, XM_011528824.2:c.2321C>T, XM_011528824.1:c.2321C>T, XM_011528825.3:c.2261C>T, XM_011528825.2:c.2261C>T, XM_011528825.1:c.2261C>T, XM_011528826.3:c.1664C>T, XM_011528826.2:c.1664C>T, XM_011528826.1:c.1664C>T, NM_001136021.3:c.2261C>T, NM_001136021.2:c.2261C>T, NM_001258292.2:c.2261C>T, NM_001258292.1:c.2261C>T, NM_001258296.2:c.1664C>T, NM_001258296.1:c.1664C>T, NM_001258294.2:c.1664C>T, NM_001258294.1:c.1664C>T, NM_001258297.2:c.1664C>T, NM_001258297.1:c.1664C>T, NM_001258295.2:c.1664C>T, NM_001258295.1:c.1664C>T, NP_036472.2:p.Pro774Leu, NP_775114.1:p.Pro774Leu, XP_011527126.1:p.Pro774Leu, XP_011527127.1:p.Pro754Leu, XP_011527128.1:p.Pro555Leu, NP_001129493.1:p.Pro754Leu, NP_001245221.1:p.Pro754Leu, NP_001245225.1:p.Pro555Leu, NP_001245223.1:p.Pro555Leu, NP_001245226.1:p.Pro555Leu, NP_001245224.1:p.Pro555Leu

Select item 14845933195.

rs1484593319 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:51523372 (GRCh38)
20:50139911 (GRCh37)
Canonical SPDI:: NC_000020.11:51523371:G:A,NC_000020.11:51523371:G:C
Gene:: NFATC2 (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_000020.11:g.51523372G>A, NC_000020.11:g.51523372G>C, NC_000020.10:g.50139911G>A, NC_000020.10:g.50139911G>C, NM_012340.5:c.869C>T, NM_012340.5:c.869C>G, NM_012340.4:c.869C>T, NM_012340.4:c.869C>G, NM_173091.4:c.869C>T, NM_173091.4:c.869C>G, NM_173091.3:c.869C>T, NM_173091.3:c.869C>G, XM_011528824.3:c.869C>T, XM_011528824.3:c.869C>G, XM_011528824.2:c.869C>T, XM_011528824.2:c.869C>G, XM_011528824.1:c.869C>T, XM_011528824.1:c.869C>G, XM_011528825.3:c.809C>T, XM_011528825.3:c.809C>G, XM_011528825.2:c.809C>T, XM_011528825.2:c.809C>G, XM_011528825.1:c.809C>T, XM_011528825.1:c.809C>G, XM_011528826.3:c.212C>T, XM_011528826.3:c.212C>G, XM_011528826.2:c.212C>T, XM_011528826.2:c.212C>G, XM_011528826.1:c.212C>T, XM_011528826.1:c.212C>G, NM_001136021.3:c.809C>T, NM_001136021.3:c.809C>G, NM_001136021.2:c.809C>T, NM_001136021.2:c.809C>G, NM_001258292.2:c.809C>T, NM_001258292.2:c.809C>G, NM_001258292.1:c.809C>T, NM_001258292.1:c.809C>G, NM_001258296.2:c.212C>T, NM_001258296.2:c.212C>G, NM_001258296.1:c.212C>T, NM_001258296.1:c.212C>G, NM_001258294.2:c.212C>T, NM_001258294.2:c.212C>G, NM_001258294.1:c.212C>T, NM_001258294.1:c.212C>G, NM_001258297.2:c.212C>T, NM_001258297.2:c.212C>G, NM_001258297.1:c.212C>T, NM_001258297.1:c.212C>G, NM_001258295.2:c.212C>T, NM_001258295.2:c.212C>G, NM_001258295.1:c.212C>T, NM_001258295.1:c.212C>G, XM_017027851.2:c.869C>T, XM_017027851.2:c.869C>G, XM_017027851.1:c.869C>T, XM_017027851.1:c.869C>G, NP_036472.2:p.Ser290Phe, NP_036472.2:p.Ser290Cys, NP_775114.1:p.Ser290Phe, NP_775114.1:p.Ser290Cys, XP_011527126.1:p.Ser290Phe, XP_011527126.1:p.Ser290Cys, XP_011527127.1:p.Ser270Phe, XP_011527127.1:p.Ser270Cys, XP_011527128.1:p.Ser71Phe, XP_011527128.1:p.Ser71Cys, NP_001129493.1:p.Ser270Phe, NP_001129493.1:p.Ser270Cys, NP_001245221.1:p.Ser270Phe, NP_001245221.1:p.Ser270Cys, NP_001245225.1:p.Ser71Phe, NP_001245225.1:p.Ser71Cys, NP_001245223.1:p.Ser71Phe, NP_001245223.1:p.Ser71Cys, NP_001245226.1:p.Ser71Phe, NP_001245226.1:p.Ser71Cys, NP_001245224.1:p.Ser71Phe, NP_001245224.1:p.Ser71Cys, XP_016883340.1:p.Ser290Phe, XP_016883340.1:p.Ser290Cys

Select item 14830706266.

rs1483070626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:51454642 (GRCh38)
20:50071179 (GRCh37)
Canonical SPDI:: NC_000020.11:51454641:T:G
Gene:: NFATC2 (Varview), MIR3194 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.51454642T>G, NC_000020.10:g.50071179T>G, NM_012340.5:c.1755A>C, NM_012340.4:c.1755A>C, NM_173091.4:c.1755A>C, NM_173091.3:c.1755A>C, XM_011528824.3:c.1755A>C, XM_011528824.2:c.1755A>C, XM_011528824.1:c.1755A>C, XM_011528825.3:c.1695A>C, XM_011528825.2:c.1695A>C, XM_011528825.1:c.1695A>C, XM_011528826.3:c.1098A>C, XM_011528826.2:c.1098A>C, XM_011528826.1:c.1098A>C, NM_001136021.3:c.1695A>C, NM_001136021.2:c.1695A>C, NM_001258292.2:c.1695A>C, NM_001258292.1:c.1695A>C, NM_001258296.2:c.1098A>C, NM_001258296.1:c.1098A>C, NM_001258294.2:c.1098A>C, NM_001258294.1:c.1098A>C, NM_001258297.2:c.1098A>C, NM_001258297.1:c.1098A>C, NM_001258295.2:c.1098A>C, NM_001258295.1:c.1098A>C, XM_017027851.2:c.1755A>C, XM_017027851.1:c.1755A>C

Select item 14827773967.

rs1482777396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:51523455 (GRCh38)
20:50139994 (GRCh37)
Canonical SPDI:: NC_000020.11:51523454:G:A,NC_000020.11:51523454:G:C
Gene:: NFATC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.51523455G>A, NC_000020.11:g.51523455G>C, NC_000020.10:g.50139994G>A, NC_000020.10:g.50139994G>C, NM_012340.5:c.786C>T, NM_012340.5:c.786C>G, NM_012340.4:c.786C>T, NM_012340.4:c.786C>G, NM_173091.4:c.786C>T, NM_173091.4:c.786C>G, NM_173091.3:c.786C>T, NM_173091.3:c.786C>G, XM_011528824.3:c.786C>T, XM_011528824.3:c.786C>G, XM_011528824.2:c.786C>T, XM_011528824.2:c.786C>G, XM_011528824.1:c.786C>T, XM_011528824.1:c.786C>G, XM_011528825.3:c.726C>T, XM_011528825.3:c.726C>G, XM_011528825.2:c.726C>T, XM_011528825.2:c.726C>G, XM_011528825.1:c.726C>T, XM_011528825.1:c.726C>G, XM_011528826.3:c.129C>T, XM_011528826.3:c.129C>G, XM_011528826.2:c.129C>T, XM_011528826.2:c.129C>G, XM_011528826.1:c.129C>T, XM_011528826.1:c.129C>G, NM_001136021.3:c.726C>T, NM_001136021.3:c.726C>G, NM_001136021.2:c.726C>T, NM_001136021.2:c.726C>G, NM_001258292.2:c.726C>T, NM_001258292.2:c.726C>G, NM_001258292.1:c.726C>T, NM_001258292.1:c.726C>G, NM_001258296.2:c.129C>T, NM_001258296.2:c.129C>G, NM_001258296.1:c.129C>T, NM_001258296.1:c.129C>G, NM_001258294.2:c.129C>T, NM_001258294.2:c.129C>G, NM_001258294.1:c.129C>T, NM_001258294.1:c.129C>G, NM_001258297.2:c.129C>T, NM_001258297.2:c.129C>G, NM_001258297.1:c.129C>T, NM_001258297.1:c.129C>G, NM_001258295.2:c.129C>T, NM_001258295.2:c.129C>G, NM_001258295.1:c.129C>T, NM_001258295.1:c.129C>G, XM_017027851.2:c.786C>T, XM_017027851.2:c.786C>G, XM_017027851.1:c.786C>T, XM_017027851.1:c.786C>G

Select item 14807104608.

rs1480710460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:51523140 (GRCh38)
20:50139679 (GRCh37)
Canonical SPDI:: NC_000020.11:51523139:G:A
Gene:: NFATC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.51523140G>A, NC_000020.10:g.50139679G>A, NM_012340.5:c.1101C>T, NM_012340.4:c.1101C>T, NM_173091.4:c.1101C>T, NM_173091.3:c.1101C>T, XM_011528824.3:c.1101C>T, XM_011528824.2:c.1101C>T, XM_011528824.1:c.1101C>T, XM_011528825.3:c.1041C>T, XM_011528825.2:c.1041C>T, XM_011528825.1:c.1041C>T, XM_011528826.3:c.444C>T, XM_011528826.2:c.444C>T, XM_011528826.1:c.444C>T, NM_001136021.3:c.1041C>T, NM_001136021.2:c.1041C>T, NM_001258292.2:c.1041C>T, NM_001258292.1:c.1041C>T, NM_001258296.2:c.444C>T, NM_001258296.1:c.444C>T, NM_001258294.2:c.444C>T, NM_001258294.1:c.444C>T, NM_001258297.2:c.444C>T, NM_001258297.1:c.444C>T, NM_001258295.2:c.444C>T, NM_001258295.1:c.444C>T, XM_017027851.2:c.1101C>T, XM_017027851.1:c.1101C>T

Select item 14787164829.

rs1478716482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:51516886 (GRCh38)
20:50133425 (GRCh37)
Canonical SPDI:: NC_000020.11:51516885:C:T
Gene:: NFATC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.51516886C>T, NC_000020.10:g.50133425C>T, NM_012340.5:c.1230G>A, NM_012340.4:c.1230G>A, NM_173091.4:c.1230G>A, NM_173091.3:c.1230G>A, XM_011528824.3:c.1230G>A, XM_011528824.2:c.1230G>A, XM_011528824.1:c.1230G>A, XM_011528825.3:c.1170G>A, XM_011528825.2:c.1170G>A, XM_011528825.1:c.1170G>A, XM_011528826.3:c.573G>A, XM_011528826.2:c.573G>A, XM_011528826.1:c.573G>A, NM_001136021.3:c.1170G>A, NM_001136021.2:c.1170G>A, NM_001258292.2:c.1170G>A, NM_001258292.1:c.1170G>A, NM_001258296.2:c.573G>A, NM_001258296.1:c.573G>A, NM_001258294.2:c.573G>A, NM_001258294.1:c.573G>A, NM_001258297.2:c.573G>A, NM_001258297.1:c.573G>A, NM_001258295.2:c.573G>A, NM_001258295.1:c.573G>A, XM_017027851.2:c.1230G>A, XM_017027851.1:c.1230G>A

Select item 147629124610.

rs1476291246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:51523559 (GRCh38)
20:50140098 (GRCh37)
Canonical SPDI:: NC_000020.11:51523558:C:T
Gene:: NFATC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000020.11:g.51523559C>T, NC_000020.10:g.50140098C>T, NM_012340.5:c.682G>A, NM_012340.4:c.682G>A, NM_173091.4:c.682G>A, NM_173091.3:c.682G>A, XM_011528824.3:c.682G>A, XM_011528824.2:c.682G>A, XM_011528824.1:c.682G>A, XM_011528825.3:c.622G>A, XM_011528825.2:c.622G>A, XM_011528825.1:c.622G>A, XM_011528826.3:c.25G>A, XM_011528826.2:c.25G>A, XM_011528826.1:c.25G>A, NM_001136021.3:c.622G>A, NM_001136021.2:c.622G>A, NM_001258292.2:c.622G>A, NM_001258292.1:c.622G>A, NM_001258296.2:c.25G>A, NM_001258296.1:c.25G>A, NM_001258294.2:c.25G>A, NM_001258294.1:c.25G>A, NM_001258297.2:c.25G>A, NM_001258297.1:c.25G>A, NM_001258295.2:c.25G>A, NM_001258295.1:c.25G>A, XM_017027851.2:c.682G>A, XM_017027851.1:c.682G>A, NP_036472.2:p.Glu228Lys, NP_775114.1:p.Glu228Lys, XP_011527126.1:p.Glu228Lys, XP_011527127.1:p.Glu208Lys, XP_011527128.1:p.Glu9Lys, NP_001129493.1:p.Glu208Lys, NP_001245221.1:p.Glu208Lys, NP_001245225.1:p.Glu9Lys, NP_001245223.1:p.Glu9Lys, NP_001245226.1:p.Glu9Lys, NP_001245224.1:p.Glu9Lys, XP_016883340.1:p.Glu228Lys

Select item 147545371211.

rs1475453712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:51523470 (GRCh38)
20:50140009 (GRCh37)
Canonical SPDI:: NC_000020.11:51523469:G:A
Gene:: NFATC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.51523470G>A, NC_000020.10:g.50140009G>A, NM_012340.5:c.771C>T, NM_012340.4:c.771C>T, NM_173091.4:c.771C>T, NM_173091.3:c.771C>T, XM_011528824.3:c.771C>T, XM_011528824.2:c.771C>T, XM_011528824.1:c.771C>T, XM_011528825.3:c.711C>T, XM_011528825.2:c.711C>T, XM_011528825.1:c.711C>T, XM_011528826.3:c.114C>T, XM_011528826.2:c.114C>T, XM_011528826.1:c.114C>T, NM_001136021.3:c.711C>T, NM_001136021.2:c.711C>T, NM_001258292.2:c.711C>T, NM_001258292.1:c.711C>T, NM_001258296.2:c.114C>T, NM_001258296.1:c.114C>T, NM_001258294.2:c.114C>T, NM_001258294.1:c.114C>T, NM_001258297.2:c.114C>T, NM_001258297.1:c.114C>T, NM_001258295.2:c.114C>T, NM_001258295.1:c.114C>T, XM_017027851.2:c.771C>T, XM_017027851.1:c.771C>T

Select item 147356528612.

rs1473565286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:51435281 (GRCh38)
20:50051818 (GRCh37)
Canonical SPDI:: NC_000020.11:51435280:T:A,NC_000020.11:51435280:T:C
Gene:: NFATC2 (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)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.51435281T>A, NC_000020.11:g.51435281T>C, NC_000020.10:g.50051818T>A, NC_000020.10:g.50051818T>C, NM_012340.5:c.1939A>T, NM_012340.5:c.1939A>G, NM_012340.4:c.1939A>T, NM_012340.4:c.1939A>G, NM_173091.4:c.1939A>T, NM_173091.4:c.1939A>G, NM_173091.3:c.1939A>T, NM_173091.3:c.1939A>G, XM_011528824.3:c.1939A>T, XM_011528824.3:c.1939A>G, XM_011528824.2:c.1939A>T, XM_011528824.2:c.1939A>G, XM_011528824.1:c.1939A>T, XM_011528824.1:c.1939A>G, XM_011528825.3:c.1879A>T, XM_011528825.3:c.1879A>G, XM_011528825.2:c.1879A>T, XM_011528825.2:c.1879A>G, XM_011528825.1:c.1879A>T, XM_011528825.1:c.1879A>G, XM_011528826.3:c.1282A>T, XM_011528826.3:c.1282A>G, XM_011528826.2:c.1282A>T, XM_011528826.2:c.1282A>G, XM_011528826.1:c.1282A>T, XM_011528826.1:c.1282A>G, NM_001136021.3:c.1879A>T, NM_001136021.3:c.1879A>G, NM_001136021.2:c.1879A>T, NM_001136021.2:c.1879A>G, NM_001258292.2:c.1879A>T, NM_001258292.2:c.1879A>G, NM_001258292.1:c.1879A>T, NM_001258292.1:c.1879A>G, NM_001258296.2:c.1282A>T, NM_001258296.2:c.1282A>G, NM_001258296.1:c.1282A>T, NM_001258296.1:c.1282A>G, NM_001258294.2:c.1282A>T, NM_001258294.2:c.1282A>G, NM_001258294.1:c.1282A>T, NM_001258294.1:c.1282A>G, NM_001258297.2:c.1282A>T, NM_001258297.2:c.1282A>G, NM_001258297.1:c.1282A>T, NM_001258297.1:c.1282A>G, NM_001258295.2:c.1282A>T, NM_001258295.2:c.1282A>G, NM_001258295.1:c.1282A>T, NM_001258295.1:c.1282A>G, XM_017027851.2:c.1939A>T, XM_017027851.2:c.1939A>G, XM_017027851.1:c.1939A>T, XM_017027851.1:c.1939A>G, NP_036472.2:p.Asn647Tyr, NP_036472.2:p.Asn647Asp, NP_775114.1:p.Asn647Tyr, NP_775114.1:p.Asn647Asp, XP_011527126.1:p.Asn647Tyr, XP_011527126.1:p.Asn647Asp, XP_011527127.1:p.Asn627Tyr, XP_011527127.1:p.Asn627Asp, XP_011527128.1:p.Asn428Tyr, XP_011527128.1:p.Asn428Asp, NP_001129493.1:p.Asn627Tyr, NP_001129493.1:p.Asn627Asp, NP_001245221.1:p.Asn627Tyr, NP_001245221.1:p.Asn627Asp, NP_001245225.1:p.Asn428Tyr, NP_001245225.1:p.Asn428Asp, NP_001245223.1:p.Asn428Tyr, NP_001245223.1:p.Asn428Asp, NP_001245226.1:p.Asn428Tyr, NP_001245226.1:p.Asn428Asp, NP_001245224.1:p.Asn428Tyr, NP_001245224.1:p.Asn428Asp, XP_016883340.1:p.Asn647Tyr, XP_016883340.1:p.Asn647Asp

Select item 147248171513.

rs1472481715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:51475652 (GRCh38)
20:50092189 (GRCh37)
Canonical SPDI:: NC_000020.11:51475651:G:T
Gene:: NFATC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000020.11:g.51475652G>T, NC_000020.10:g.50092189G>T, NM_012340.5:c.1341C>A, NM_012340.4:c.1341C>A, NM_173091.4:c.1341C>A, NM_173091.3:c.1341C>A, XM_011528824.3:c.1341C>A, XM_011528824.2:c.1341C>A, XM_011528824.1:c.1341C>A, XM_011528825.3:c.1281C>A, XM_011528825.2:c.1281C>A, XM_011528825.1:c.1281C>A, XM_011528826.3:c.684C>A, XM_011528826.2:c.684C>A, XM_011528826.1:c.684C>A, NM_001136021.3:c.1281C>A, NM_001136021.2:c.1281C>A, NM_001258292.2:c.1281C>A, NM_001258292.1:c.1281C>A, NM_001258296.2:c.684C>A, NM_001258296.1:c.684C>A, NM_001258294.2:c.684C>A, NM_001258294.1:c.684C>A, NM_001258297.2:c.684C>A, NM_001258297.1:c.684C>A, NM_001258295.2:c.684C>A, NM_001258295.1:c.684C>A, XM_017027851.2:c.1341C>A, XM_017027851.1:c.1341C>A

Select item 147240888714.

rs1472408887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:51523420 (GRCh38)
20:50139959 (GRCh37)
Canonical SPDI:: NC_000020.11:51523419:C:T
Gene:: NFATC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.51523420C>T, NC_000020.10:g.50139959C>T, NM_012340.5:c.821G>A, NM_012340.4:c.821G>A, NM_173091.4:c.821G>A, NM_173091.3:c.821G>A, XM_011528824.3:c.821G>A, XM_011528824.2:c.821G>A, XM_011528824.1:c.821G>A, XM_011528825.3:c.761G>A, XM_011528825.2:c.761G>A, XM_011528825.1:c.761G>A, XM_011528826.3:c.164G>A, XM_011528826.2:c.164G>A, XM_011528826.1:c.164G>A, NM_001136021.3:c.761G>A, NM_001136021.2:c.761G>A, NM_001258292.2:c.761G>A, NM_001258292.1:c.761G>A, NM_001258296.2:c.164G>A, NM_001258296.1:c.164G>A, NM_001258294.2:c.164G>A, NM_001258294.1:c.164G>A, NM_001258297.2:c.164G>A, NM_001258297.1:c.164G>A, NM_001258295.2:c.164G>A, NM_001258295.1:c.164G>A, XM_017027851.2:c.821G>A, XM_017027851.1:c.821G>A, NP_036472.2:p.Ser274Asn, NP_775114.1:p.Ser274Asn, XP_011527126.1:p.Ser274Asn, XP_011527127.1:p.Ser254Asn, XP_011527128.1:p.Ser55Asn, NP_001129493.1:p.Ser254Asn, NP_001245221.1:p.Ser254Asn, NP_001245225.1:p.Ser55Asn, NP_001245223.1:p.Ser55Asn, NP_001245226.1:p.Ser55Asn, NP_001245224.1:p.Ser55Asn, XP_016883340.1:p.Ser274Asn

Select item 147047668715.

rs1470476687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:51432263 (GRCh38)
20:50048800 (GRCh37)
Canonical SPDI:: NC_000020.11:51432262:G:C
Gene:: NFATC2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.51432263G>C, NC_000020.10:g.50048800G>C, NM_012340.5:c.2526C>G, NM_012340.4:c.2526C>G, NM_173091.4:c.2526C>G, NM_173091.3:c.2526C>G, XM_011528824.3:c.2526C>G, XM_011528824.2:c.2526C>G, XM_011528824.1:c.2526C>G, XM_011528825.3:c.2466C>G, XM_011528825.2:c.2466C>G, XM_011528825.1:c.2466C>G, XM_011528826.3:c.1869C>G, XM_011528826.2:c.1869C>G, XM_011528826.1:c.1869C>G, NM_001136021.3:c.2466C>G, NM_001136021.2:c.2466C>G, NM_001258292.2:c.2466C>G, NM_001258292.1:c.2466C>G, NM_001258296.2:c.1869C>G, NM_001258296.1:c.1869C>G, NM_001258294.2:c.1869C>G, NM_001258294.1:c.1869C>G, NM_001258297.2:c.1869C>G, NM_001258297.1:c.1869C>G, NM_001258295.2:c.1869C>G, NM_001258295.1:c.1869C>G

Select item 147043381216.

rs1470433812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:51432701 (GRCh38)
20:50049238 (GRCh37)
Canonical SPDI:: NC_000020.11:51432700:G:A
Gene:: NFATC2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000020.11:g.51432701G>A, NC_000020.10:g.50049238G>A, NM_012340.5:c.2088C>T, NM_012340.4:c.2088C>T, NM_173091.4:c.2088C>T, NM_173091.3:c.2088C>T, XM_011528824.3:c.2088C>T, XM_011528824.2:c.2088C>T, XM_011528824.1:c.2088C>T, XM_011528825.3:c.2028C>T, XM_011528825.2:c.2028C>T, XM_011528825.1:c.2028C>T, XM_011528826.3:c.1431C>T, XM_011528826.2:c.1431C>T, XM_011528826.1:c.1431C>T, NM_001136021.3:c.2028C>T, NM_001136021.2:c.2028C>T, NM_001258292.2:c.2028C>T, NM_001258292.1:c.2028C>T, NM_001258296.2:c.1431C>T, NM_001258296.1:c.1431C>T, NM_001258294.2:c.1431C>T, NM_001258294.1:c.1431C>T, NM_001258297.2:c.1431C>T, NM_001258297.1:c.1431C>T, NM_001258295.2:c.1431C>T, NM_001258295.1:c.1431C>T

Select item 146960739417.

rs1469607394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:51432286 (GRCh38)
20:50048823 (GRCh37)
Canonical SPDI:: NC_000020.11:51432285:C:T
Gene:: NFATC2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.004673/1 (Vietnamese)
HGVS:: NC_000020.11:g.51432286C>T, NC_000020.10:g.50048823C>T, NM_012340.5:c.2503G>A, NM_012340.4:c.2503G>A, NM_173091.4:c.2503G>A, NM_173091.3:c.2503G>A, XM_011528824.3:c.2503G>A, XM_011528824.2:c.2503G>A, XM_011528824.1:c.2503G>A, XM_011528825.3:c.2443G>A, XM_011528825.2:c.2443G>A, XM_011528825.1:c.2443G>A, XM_011528826.3:c.1846G>A, XM_011528826.2:c.1846G>A, XM_011528826.1:c.1846G>A, NM_001136021.3:c.2443G>A, NM_001136021.2:c.2443G>A, NM_001258292.2:c.2443G>A, NM_001258292.1:c.2443G>A, NM_001258296.2:c.1846G>A, NM_001258296.1:c.1846G>A, NM_001258294.2:c.1846G>A, NM_001258294.1:c.1846G>A, NM_001258297.2:c.1846G>A, NM_001258297.1:c.1846G>A, NM_001258295.2:c.1846G>A, NM_001258295.1:c.1846G>A, NP_036472.2:p.Glu835Lys, NP_775114.1:p.Glu835Lys, XP_011527126.1:p.Glu835Lys, XP_011527127.1:p.Glu815Lys, XP_011527128.1:p.Glu616Lys, NP_001129493.1:p.Glu815Lys, NP_001245221.1:p.Glu815Lys, NP_001245225.1:p.Glu616Lys, NP_001245223.1:p.Glu616Lys, NP_001245226.1:p.Glu616Lys, NP_001245224.1:p.Glu616Lys

Select item 146663889518.

rs1466638895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:51432416 (GRCh38)
20:50048953 (GRCh37)
Canonical SPDI:: NC_000020.11:51432415:C:T
Gene:: NFATC2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.51432416C>T, NC_000020.10:g.50048953C>T, NM_012340.5:c.2373G>A, NM_012340.4:c.2373G>A, NM_173091.4:c.2373G>A, NM_173091.3:c.2373G>A, XM_011528824.3:c.2373G>A, XM_011528824.2:c.2373G>A, XM_011528824.1:c.2373G>A, XM_011528825.3:c.2313G>A, XM_011528825.2:c.2313G>A, XM_011528825.1:c.2313G>A, XM_011528826.3:c.1716G>A, XM_011528826.2:c.1716G>A, XM_011528826.1:c.1716G>A, NM_001136021.3:c.2313G>A, NM_001136021.2:c.2313G>A, NM_001258292.2:c.2313G>A, NM_001258292.1:c.2313G>A, NM_001258296.2:c.1716G>A, NM_001258296.1:c.1716G>A, NM_001258294.2:c.1716G>A, NM_001258294.1:c.1716G>A, NM_001258297.2:c.1716G>A, NM_001258297.1:c.1716G>A, NM_001258295.2:c.1716G>A, NM_001258295.1:c.1716G>A

Select item 146549228119.

rs1465492281 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:51474112 (GRCh38)
20:50090649 (GRCh37)
Canonical SPDI:: NC_000020.11:51474111:T:C
Gene:: NFATC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.51474112T>C, NC_000020.10:g.50090649T>C, NM_012340.5:c.1576A>G, NM_012340.4:c.1576A>G, NM_173091.4:c.1576A>G, NM_173091.3:c.1576A>G, XM_011528824.3:c.1576A>G, XM_011528824.2:c.1576A>G, XM_011528824.1:c.1576A>G, XM_011528825.3:c.1516A>G, XM_011528825.2:c.1516A>G, XM_011528825.1:c.1516A>G, XM_011528826.3:c.919A>G, XM_011528826.2:c.919A>G, XM_011528826.1:c.919A>G, NM_001136021.3:c.1516A>G, NM_001136021.2:c.1516A>G, NM_001258292.2:c.1516A>G, NM_001258292.1:c.1516A>G, NM_001258296.2:c.919A>G, NM_001258296.1:c.919A>G, NM_001258294.2:c.919A>G, NM_001258294.1:c.919A>G, NM_001258297.2:c.919A>G, NM_001258297.1:c.919A>G, NM_001258295.2:c.919A>G, NM_001258295.1:c.919A>G, XM_017027851.2:c.1576A>G, XM_017027851.1:c.1576A>G, NP_036472.2:p.Ile526Val, NP_775114.1:p.Ile526Val, XP_011527126.1:p.Ile526Val, XP_011527127.1:p.Ile506Val, XP_011527128.1:p.Ile307Val, NP_001129493.1:p.Ile506Val, NP_001245221.1:p.Ile506Val, NP_001245225.1:p.Ile307Val, NP_001245223.1:p.Ile307Val, NP_001245226.1:p.Ile307Val, NP_001245224.1:p.Ile307Val, XP_016883340.1:p.Ile526Val

Select item 146420279020.

rs1464202790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:51516896 (GRCh38)
20:50133435 (GRCh37)
Canonical SPDI:: NC_000020.11:51516895:G:A,NC_000020.11:51516895:G:C
Gene:: NFATC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000020.11:g.51516896G>A, NC_000020.11:g.51516896G>C, NC_000020.10:g.50133435G>A, NC_000020.10:g.50133435G>C, NM_012340.5:c.1220C>T, NM_012340.5:c.1220C>G, NM_012340.4:c.1220C>T, NM_012340.4:c.1220C>G, NM_173091.4:c.1220C>T, NM_173091.4:c.1220C>G, NM_173091.3:c.1220C>T, NM_173091.3:c.1220C>G, XM_011528824.3:c.1220C>T, XM_011528824.3:c.1220C>G, XM_011528824.2:c.1220C>T, XM_011528824.2:c.1220C>G, XM_011528824.1:c.1220C>T, XM_011528824.1:c.1220C>G, XM_011528825.3:c.1160C>T, XM_011528825.3:c.1160C>G, XM_011528825.2:c.1160C>T, XM_011528825.2:c.1160C>G, XM_011528825.1:c.1160C>T, XM_011528825.1:c.1160C>G, XM_011528826.3:c.563C>T, XM_011528826.3:c.563C>G, XM_011528826.2:c.563C>T, XM_011528826.2:c.563C>G, XM_011528826.1:c.563C>T, XM_011528826.1:c.563C>G, NM_001136021.3:c.1160C>T, NM_001136021.3:c.1160C>G, NM_001136021.2:c.1160C>T, NM_001136021.2:c.1160C>G, NM_001258292.2:c.1160C>T, NM_001258292.2:c.1160C>G, NM_001258292.1:c.1160C>T, NM_001258292.1:c.1160C>G, NM_001258296.2:c.563C>T, NM_001258296.2:c.563C>G, NM_001258296.1:c.563C>T, NM_001258296.1:c.563C>G, NM_001258294.2:c.563C>T, NM_001258294.2:c.563C>G, NM_001258294.1:c.563C>T, NM_001258294.1:c.563C>G, NM_001258297.2:c.563C>T, NM_001258297.2:c.563C>G, NM_001258297.1:c.563C>T, NM_001258297.1:c.563C>G, NM_001258295.2:c.563C>T, NM_001258295.2:c.563C>G, NM_001258295.1:c.563C>T, NM_001258295.1:c.563C>G, XM_017027851.2:c.1220C>T, XM_017027851.2:c.1220C>G, XM_017027851.1:c.1220C>T, XM_017027851.1:c.1220C>G, NP_036472.2:p.Ser407Phe, NP_036472.2:p.Ser407Cys, NP_775114.1:p.Ser407Phe, NP_775114.1:p.Ser407Cys, XP_011527126.1:p.Ser407Phe, XP_011527126.1:p.Ser407Cys, XP_011527127.1:p.Ser387Phe, XP_011527127.1:p.Ser387Cys, XP_011527128.1:p.Ser188Phe, XP_011527128.1:p.Ser188Cys, NP_001129493.1:p.Ser387Phe, NP_001129493.1:p.Ser387Cys, NP_001245221.1:p.Ser387Phe, NP_001245221.1:p.Ser387Cys, NP_001245225.1:p.Ser188Phe, NP_001245225.1:p.Ser188Cys, NP_001245223.1:p.Ser188Phe, NP_001245223.1:p.Ser188Cys, NP_001245226.1:p.Ser188Phe, NP_001245226.1:p.Ser188Cys, NP_001245224.1:p.Ser188Phe, NP_001245224.1:p.Ser188Cys, XP_016883340.1:p.Ser407Phe, XP_016883340.1:p.Ser407Cys

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