Canonical Allele Identifier: CA369856706

Gene: KCNH2

Linked Data

• dbSNP Id: rs1460535832
• MyVariant Identifiers: chr7:g.150647490C>T (hg19) ; chr7:g.150950402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950402C>T , CM000669.2:g.150950402C>T	GRCh38
NC_000007.13:g.150647490C>T , CM000669.1:g.150647490C>T	GRCh37
NC_000007.12:g.150278423C>T	NCBI36
NG_008916.1:g.32525G>A , LRG_288:g.32525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1462G>A
ENST00000684241.1:n.2997G>A
ENST00000262186.10:c.2164G>A MANE Select	ENSP00000262186.5:p.Glu722Lys
ENST00000330883.9:c.1144G>A	ENSP00000328531.4:p.Glu382Lys
ENST00000262186.9:c.2164G>A	ENSP00000262186.5:p.Glu722Lys
ENST00000330883.8:c.1144G>A	ENSP00000328531.4:p.Glu382Lys
ENST00000430723.4:c.1816G>A	ENSP00000387657.4:p.Glu606Lys
ENST00000461280.1:n.1451G>A
ENST00000473610.5:n.1796G>A
ENST00000532957.5:n.2387G>A
NM_000238.3:c.2164G>A , LRG_288t1:c.2164G>A	NP_000229.1:p.Glu722Lys
NM_001204798.1:c.1144G>A	NP_001191727.1:p.Glu382Lys
NM_172056.2:c.2164G>A , LRG_288t2:c.2164G>A	NP_742053.1:p.Glu722Lys
NM_172057.2:c.1144G>A , LRG_288t3:c.1144G>A	NP_742054.1:p.Glu382Lys
XM_011516185.1:c.1864G>A	XP_011514487.1:p.Glu622Lys
XM_011516186.1:c.2164G>A	XP_011514488.1:p.Glu722Lys
XM_011516185.2:c.1864G>A	XP_011514487.1:p.Glu622Lys
XM_011516186.3:c.2164G>A	XP_011514488.1:p.Glu722Lys
XM_017012195.1:c.2014G>A	XP_016867684.1:p.Glu672Lys
XM_017012196.1:c.1987G>A	XP_016867685.1:p.Glu663Lys
NM_000238.4:c.2164G>A MANE Select	NP_000229.1:p.Glu722Lys
NM_001204798.2:c.1144G>A	NP_001191727.1:p.Glu382Lys
NM_172057.3:c.1144G>A	NP_742054.1:p.Glu382Lys