Canonical Allele Identifier: CA400863069
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2922323
ClinVar RCV Id: RCV003785537
dbSNP Id: rs1598211540

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70176046A>G , CM000679.2:g.70176046A>G GRCh38
NC_000017.10:g.68172187A>G , CM000679.1:g.68172187A>G GRCh37
NC_000017.9:g.65683782A>G NCBI36
NG_008798.1:g.11512A>G , LRG_328:g.11512A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.1007A>G MANE Select ENSP00000243457.2:p.Tyr336Cys
ENST00000243457.3:c.1007A>G ENSP00000243457.2:p.Tyr336Cys
ENST00000535240.1:c.1007A>G ENSP00000441848.1:p.Tyr336Cys
NM_000891.2:c.1007A>G , LRG_328t1:c.1007A>G NP_000882.1:p.Tyr336Cys
XM_011524779.1:c.1007A>G XP_011523081.1:p.Tyr336Cys
NM_000891.3:c.1007A>G MANE Select NP_000882.1:p.Tyr336Cys