Canonical Allele Identifier: CA16615918
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 403973
dbSNP Id: rs1060500052

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175455C>T , CM000679.2:g.70175455C>T GRCh38
NC_000017.10:g.68171596C>T , CM000679.1:g.68171596C>T GRCh37
NC_000017.9:g.65683191C>T NCBI36
NG_008798.1:g.10921C>T , LRG_328:g.10921C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.416C>T MANE Select ENSP00000243457.2:p.Thr139Ile
ENST00000243457.3:c.416C>T ENSP00000243457.2:p.Thr139Ile
ENST00000535240.1:c.416C>T ENSP00000441848.1:p.Thr139Ile
NM_000891.2:c.416C>T , LRG_328t1:c.416C>T NP_000882.1:p.Thr139Ile
XM_011524779.1:c.416C>T XP_011523081.1:p.Thr139Ile
NM_000891.3:c.416C>T MANE Select NP_000882.1:p.Thr139Ile