Canonical Allele Identifier: CA400861940

Gene: KCNJ2

Linked Data

• MyVariant Identifiers: chr17:g.68171937G>T (hg19) ; chr17:g.70175796G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175796G>T , CM000679.2:g.70175796G>T	GRCh38
NC_000017.10:g.68171937G>T , CM000679.1:g.68171937G>T	GRCh37
NC_000017.9:g.65683532G>T	NCBI36
NG_008798.1:g.11262G>T , LRG_328:g.11262G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.757G>T MANE Select	ENSP00000243457.2:p.Gly253Trp
ENST00000243457.3:c.757G>T	ENSP00000243457.2:p.Gly253Trp
ENST00000535240.1:c.757G>T	ENSP00000441848.1:p.Gly253Trp
NM_000891.2:c.757G>T , LRG_328t1:c.757G>T	NP_000882.1:p.Gly253Trp
XM_011524779.1:c.757G>T	XP_011523081.1:p.Gly253Trp
NM_000891.3:c.757G>T MANE Select	NP_000882.1:p.Gly253Trp