Canonical Allele Identifier: CA254594
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8920
dbSNP Id: rs104894579

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175938G>T , CM000679.2:g.70175938G>T GRCh38
NC_000017.10:g.68172079G>T , CM000679.1:g.68172079G>T GRCh37
NC_000017.9:g.65683674G>T NCBI36
NG_008798.1:g.11404G>T , LRG_328:g.11404G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.899G>T MANE Select ENSP00000243457.2:p.Gly300Val
ENST00000243457.3:c.899G>T ENSP00000243457.2:p.Gly300Val
ENST00000535240.1:c.899G>T ENSP00000441848.1:p.Gly300Val
NM_000891.2:c.899G>T , LRG_328t1:c.899G>T NP_000882.1:p.Gly300Val
XM_011524779.1:c.899G>T XP_011523081.1:p.Gly300Val
NM_000891.3:c.899G>T MANE Select NP_000882.1:p.Gly300Val