Canonical Allele Identifier: CA259745
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 30120
dbSNP Id: rs199473387

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175952A>C , CM000679.2:g.70175952A>C GRCh38
NC_000017.10:g.68172093A>C , CM000679.1:g.68172093A>C GRCh37
NC_000017.9:g.65683688A>C NCBI36
NG_008798.1:g.11418A>C , LRG_328:g.11418A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.913A>C MANE Select ENSP00000243457.2:p.Thr305Pro
ENST00000243457.3:c.913A>C ENSP00000243457.2:p.Thr305Pro
ENST00000535240.1:c.913A>C ENSP00000441848.1:p.Thr305Pro
NM_000891.2:c.913A>C , LRG_328t1:c.913A>C NP_000882.1:p.Thr305Pro
XM_011524779.1:c.913A>C XP_011523081.1:p.Thr305Pro
NM_000891.3:c.913A>C MANE Select NP_000882.1:p.Thr305Pro