Canonical Allele Identifier: CA2272996868
Community Standard Title: NM_000891.3(KCNJ2):c.1265G= (p.Arg422=)
Gene: KCNJ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70176304G= , CM000679.2:g.70176304G= GRCh38
NC_000017.10:g.68172445G= , CM000679.1:g.68172445G= GRCh37
NC_000017.9:g.65684040G= NCBI36
NG_008798.1:g.11770G= , LRG_328:g.11770G=

Transcript Alleles

HGVS Amino-acid Change
NM_000891.3:c.1265G= MANE Select NP_000882.1:p.Arg422=
ENST00000243457.4:c.1265G= MANE Select ENSP00000243457.2:p.Arg422=
NM_000891.2:c.1265G= , LRG_328t1:c.1265G= NP_000882.1:p.Arg422=
ENST00000243457.3:c.1265G= ENSP00000243457.2:p.Arg422=
ENST00000535240.1:c.1265G= ENSP00000441848.1:p.Arg422=
XM_011524779.1:c.1265G= XP_011523081.1:p.Arg422=