Canonical Allele Identifier: CA254596
Gene: KCNJ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8924
dbSNP Id: rs104894581

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175596C>T , CM000679.2:g.70175596C>T GRCh38
NC_000017.10:g.68171737C>T , CM000679.1:g.68171737C>T GRCh37
NC_000017.9:g.65683332C>T NCBI36
NG_008798.1:g.11062C>T , LRG_328:g.11062C>T

Transcript Alleles

HGVS Amino-acid change
NM_000891.2:c.557C>T , LRG_328t1:c.557C>T NP_000882.1:p.Pro186Leu
XM_011524779.1:c.557C>T XP_011523081.1:p.Pro186Leu
ENST00000243457.3:c.557C>T ENSP00000243457.2:p.Pro186Leu
ENST00000535240.1:c.557C>T ENSP00000441848.1:p.Pro186Leu