Canonical Allele Identifier: CA400861910
Gene: KCNJ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175788T>A , CM000679.2:g.70175788T>A GRCh38
NC_000017.10:g.68171929T>A , CM000679.1:g.68171929T>A GRCh37
NC_000017.9:g.65683524T>A NCBI36
NG_008798.1:g.11254T>A , LRG_328:g.11254T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.749T>A MANE Select ENSP00000243457.2:p.Ile250Asn
ENST00000243457.3:c.749T>A ENSP00000243457.2:p.Ile250Asn
ENST00000535240.1:c.749T>A ENSP00000441848.1:p.Ile250Asn
NM_000891.2:c.749T>A , LRG_328t1:c.749T>A NP_000882.1:p.Ile250Asn
XM_011524779.1:c.749T>A XP_011523081.1:p.Ile250Asn
NM_000891.3:c.749T>A MANE Select NP_000882.1:p.Ile250Asn