Canonical Allele Identifier: CA400862338
Gene: KCNJ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175884T>A , CM000679.2:g.70175884T>A GRCh38
NC_000017.10:g.68172025T>A , CM000679.1:g.68172025T>A GRCh37
NC_000017.9:g.65683620T>A NCBI36
NG_008798.1:g.11350T>A , LRG_328:g.11350T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.845T>A MANE Select ENSP00000243457.2:p.Leu282Ter
ENST00000243457.3:c.845T>A ENSP00000243457.2:p.Leu282Ter
ENST00000535240.1:c.845T>A ENSP00000441848.1:p.Leu282Ter
NM_000891.2:c.845T>A , LRG_328t1:c.845T>A NP_000882.1:p.Leu282Ter
XM_011524779.1:c.845T>A XP_011523081.1:p.Leu282Ter
NM_000891.3:c.845T>A MANE Select NP_000882.1:p.Leu282Ter