Canonical Allele Identifier: CA347403
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 208081
ClinVar RCV Id: RCV000193904
dbSNP Id: rs797044842

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70176005G>C , CM000679.2:g.70176005G>C GRCh38
NC_000017.10:g.68172146G>C , CM000679.1:g.68172146G>C GRCh37
NC_000017.9:g.65683741G>C NCBI36
NG_008798.1:g.11471G>C , LRG_328:g.11471G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.966G>C MANE Select ENSP00000243457.2:p.Trp322Cys
ENST00000243457.3:c.966G>C ENSP00000243457.2:p.Trp322Cys
ENST00000535240.1:c.966G>C ENSP00000441848.1:p.Trp322Cys
NM_000891.2:c.966G>C , LRG_328t1:c.966G>C NP_000882.1:p.Trp322Cys
XM_011524779.1:c.966G>C XP_011523081.1:p.Trp322Cys
NM_000891.3:c.966G>C MANE Select NP_000882.1:p.Trp322Cys