Canonical Allele Identifier: CA501700927

Gene: KCNJ2

Linked Data

• MyVariant Identifiers: chr17:g.68172170C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70176029C>A , CM000679.2:g.70176029C>A	GRCh38
NC_000017.10:g.68172170C>A , CM000679.1:g.68172170C>A	GRCh37
NC_000017.9:g.65683765C>A	NCBI36
NG_008798.1:g.11495C>A , LRG_328:g.11495C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.990C>A MANE Select	ENSP00000243457.2:p.Leu330=
ENST00000243457.3:c.990C>A	ENSP00000243457.2:p.Leu330=
ENST00000535240.1:c.990C>A	ENSP00000441848.1:p.Leu330=
NM_000891.2:c.990C>A , LRG_328t1:c.990C>A	NP_000882.1:p.Leu330=
XM_011524779.1:c.990C>A	XP_011523081.1:p.Leu330=
NM_000891.3:c.990C>A MANE Select	NP_000882.1:p.Leu330=