Canonical Allele Identifier: CA400860691
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1006036
ClinVar RCV Id: RCV001303009
dbSNP Id: rs2074387480

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175520G>A , CM000679.2:g.70175520G>A GRCh38
NC_000017.10:g.68171661G>A , CM000679.1:g.68171661G>A GRCh37
NC_000017.9:g.65683256G>A NCBI36
NG_008798.1:g.10986G>A , LRG_328:g.10986G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.481G>A MANE Select ENSP00000243457.2:p.Val161Met
ENST00000243457.3:c.481G>A ENSP00000243457.2:p.Val161Met
ENST00000535240.1:c.481G>A ENSP00000441848.1:p.Val161Met
NM_000891.2:c.481G>A , LRG_328t1:c.481G>A NP_000882.1:p.Val161Met
XM_011524779.1:c.481G>A XP_011523081.1:p.Val161Met
NM_000891.3:c.481G>A MANE Select NP_000882.1:p.Val161Met