Canonical Allele Identifier: CA329684
Gene: KCNJ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67579
ClinVar RCV Id: RCV000058317
dbSNP Id: rs199473380

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175500G>T , CM000679.2:g.70175500G>T GRCh38
NC_000017.9:g.65683236G>T NCBI36
NC_000017.10:g.68171641G>T , CM000679.1:g.68171641G>T GRCh37
NG_008798.1:g.10966G>T , LRG_328:g.10966G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.3:c.461G>T ENSP00000243457.2:p.Cys154Phe
ENST00000535240.1:c.461G>T ENSP00000441848.1:p.Cys154Phe
NM_000891.2:c.461G>T , LRG_328t1:c.461G>T NP_000882.1:p.Cys154Phe
XM_011524779.1:c.461G>T XP_011523081.1:p.Cys154Phe