Canonical Allele Identifier: CA2272996772
Gene: KCNJ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70176027C= , CM000679.2:g.70176027C= GRCh38
NC_000017.10:g.68172168C= , CM000679.1:g.68172168C= GRCh37
NC_000017.9:g.65683763C= NCBI36
NG_008798.1:g.11493C= , LRG_328:g.11493C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.988C= MANE Select ENSP00000243457.2:p.Leu330=
ENST00000243457.3:c.988C= ENSP00000243457.2:p.Leu330=
ENST00000535240.1:c.988C= ENSP00000441848.1:p.Leu330=
NM_000891.2:c.988C= , LRG_328t1:c.988C= NP_000882.1:p.Leu330=
XM_011524779.1:c.988C= XP_011523081.1:p.Leu330=
NM_000891.3:c.988C= MANE Select NP_000882.1:p.Leu330=