Canonical Allele Identifier: CA329690
Gene: KCNJ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67582
ClinVar RCV Id: RCV000058322
dbSNP Id: rs199473655

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175614C>T , CM000679.2:g.70175614C>T GRCh38
NC_000017.10:g.68171755C>T , CM000679.1:g.68171755C>T GRCh37
NC_000017.9:g.65683350C>T NCBI36
NG_008798.1:g.11080C>T , LRG_328:g.11080C>T

Transcript Alleles

HGVS Amino-acid change
NM_000891.2:c.575C>T , LRG_328t1:c.575C>T NP_000882.1:p.Thr192Ile
XM_011524779.1:c.575C>T XP_011523081.1:p.Thr192Ile
ENST00000243457.3:c.575C>T ENSP00000243457.2:p.Thr192Ile
ENST00000535240.1:c.575C>T ENSP00000441848.1:p.Thr192Ile