Canonical Allele Identifier: CA400861900

Gene: KCNJ2

Linked Data

• MyVariant Identifiers: chr17:g.68171925G>T (hg19) ; chr17:g.70175784G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70175784G>T , CM000679.2:g.70175784G>T	GRCh38
NC_000017.10:g.68171925G>T , CM000679.1:g.68171925G>T	GRCh37
NC_000017.9:g.65683520G>T	NCBI36
NG_008798.1:g.11250G>T , LRG_328:g.11250G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243457.4:c.745G>T MANE Select	ENSP00000243457.2:p.Asp249Tyr
ENST00000243457.3:c.745G>T	ENSP00000243457.2:p.Asp249Tyr
ENST00000535240.1:c.745G>T	ENSP00000441848.1:p.Asp249Tyr
NM_000891.2:c.745G>T , LRG_328t1:c.745G>T	NP_000882.1:p.Asp249Tyr
XM_011524779.1:c.745G>T	XP_011523081.1:p.Asp249Tyr
NM_000891.3:c.745G>T MANE Select	NP_000882.1:p.Asp249Tyr