Canonical Allele Identifier: CA400861162
Gene: KCNJ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175629A>T , CM000679.2:g.70175629A>T GRCh38
NC_000017.10:g.68171770A>T , CM000679.1:g.68171770A>T GRCh37
NC_000017.9:g.65683365A>T NCBI36
NG_008798.1:g.11095A>T , LRG_328:g.11095A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.590A>T MANE Select ENSP00000243457.2:p.His197Leu
ENST00000243457.3:c.590A>T ENSP00000243457.2:p.His197Leu
ENST00000535240.1:c.590A>T ENSP00000441848.1:p.His197Leu
NM_000891.2:c.590A>T , LRG_328t1:c.590A>T NP_000882.1:p.His197Leu
XM_011524779.1:c.590A>T XP_011523081.1:p.His197Leu
NM_000891.3:c.590A>T MANE Select NP_000882.1:p.His197Leu