Canonical Allele Identifier: CA400860589
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 858285
ClinVar RCV Id: RCV001064131
dbSNP Id: rs2074387117

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175473A>G , CM000679.2:g.70175473A>G GRCh38
NC_000017.10:g.68171614A>G , CM000679.1:g.68171614A>G GRCh37
NC_000017.9:g.65683209A>G NCBI36
NG_008798.1:g.10939A>G , LRG_328:g.10939A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.434A>G MANE Select ENSP00000243457.2:p.Tyr145Cys
ENST00000243457.3:c.434A>G ENSP00000243457.2:p.Tyr145Cys
ENST00000535240.1:c.434A>G ENSP00000441848.1:p.Tyr145Cys
NM_000891.2:c.434A>G , LRG_328t1:c.434A>G NP_000882.1:p.Tyr145Cys
XM_011524779.1:c.434A>G XP_011523081.1:p.Tyr145Cys
NM_000891.3:c.434A>G MANE Select NP_000882.1:p.Tyr145Cys