Canonical Allele Identifier: CA254600
Gene: KCNJ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8926
dbSNP Id: rs104894583

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175685A>C , CM000679.2:g.70175685A>C GRCh38
NC_000017.10:g.68171826A>C , CM000679.1:g.68171826A>C GRCh37
NC_000017.9:g.65683421A>C NCBI36
NG_008798.1:g.11151A>C , LRG_328:g.11151A>C

Transcript Alleles

HGVS Amino-acid change
NM_000891.2:c.646A>C , LRG_328t1:c.646A>C NP_000882.1:p.Asn216His
XM_011524779.1:c.646A>C XP_011523081.1:p.Asn216His
ENST00000243457.3:c.646A>C ENSP00000243457.2:p.Asn216His
ENST00000535240.1:c.646A>C ENSP00000441848.1:p.Asn216His