Canonical Allele Identifier: CA329633
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67558
ClinVar RCV Id: RCV000058291
dbSNP Id: rs199473659

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70176090C>T , CM000679.2:g.70176090C>T GRCh38
NC_000017.10:g.68172231C>T , CM000679.1:g.68172231C>T GRCh37
NC_000017.9:g.65683826C>T NCBI36
NG_008798.1:g.11556C>T , LRG_328:g.11556C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.1051C>T MANE Select ENSP00000243457.2:p.Pro351Ser
ENST00000243457.3:c.1051C>T ENSP00000243457.2:p.Pro351Ser
ENST00000535240.1:c.1051C>T ENSP00000441848.1:p.Pro351Ser
NM_000891.2:c.1051C>T , LRG_328t1:c.1051C>T NP_000882.1:p.Pro351Ser
XM_011524779.1:c.1051C>T XP_011523081.1:p.Pro351Ser
NM_000891.3:c.1051C>T MANE Select NP_000882.1:p.Pro351Ser