Canonical Allele Identifier: CA145016
Gene: KCNJ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67570
ClinVar RCV Id: RCV000058308
dbSNP Id: rs199473374

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175340T>C , CM000679.2:g.70175340T>C GRCh38
NC_000017.10:g.68171481T>C , CM000679.1:g.68171481T>C GRCh37
NC_000017.9:g.65683076T>C NCBI36
NG_008798.1:g.10806T>C , LRG_328:g.10806T>C

Transcript Alleles

HGVS Amino-acid change
NM_000891.2:c.301T>C , LRG_328t1:c.301T>C NP_000882.1:p.Cys101Arg
XM_011524779.1:c.301T>C XP_011523081.1:p.Cys101Arg
ENST00000243457.3:c.301T>C ENSP00000243457.2:p.Cys101Arg
ENST00000535240.1:c.301T>C ENSP00000441848.1:p.Cys101Arg