Canonical Allele Identifier: CA369857716

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648172G>T (hg19) ; chr7:g.150951084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951084G>T , CM000669.2:g.150951084G>T	GRCh38
NC_000007.13:g.150648172G>T , CM000669.1:g.150648172G>T	GRCh37
NC_000007.12:g.150279105G>T	NCBI36
NG_008916.1:g.31843C>A , LRG_288:g.31843C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1280C>A
ENST00000683359.1:n.106C>A
ENST00000684241.1:n.2815C>A
ENST00000262186.10:c.1982C>A MANE Select	ENSP00000262186.5:p.Ala661Asp
ENST00000330883.9:c.962C>A	ENSP00000328531.4:p.Ala321Asp
ENST00000262186.9:c.1982C>A	ENSP00000262186.5:p.Ala661Asp
ENST00000330883.8:c.962C>A	ENSP00000328531.4:p.Ala321Asp
ENST00000430723.4:c.1634C>A	ENSP00000387657.4:p.Ala545Asp
ENST00000461280.1:n.1269C>A
ENST00000473610.5:n.1614C>A
ENST00000532957.5:n.2205C>A
NM_000238.3:c.1982C>A , LRG_288t1:c.1982C>A	NP_000229.1:p.Ala661Asp
NM_001204798.1:c.962C>A	NP_001191727.1:p.Ala321Asp
NM_172056.2:c.1982C>A , LRG_288t2:c.1982C>A	NP_742053.1:p.Ala661Asp
NM_172057.2:c.962C>A , LRG_288t3:c.962C>A	NP_742054.1:p.Ala321Asp
XM_011516185.1:c.1682C>A	XP_011514487.1:p.Ala561Asp
XM_011516186.1:c.1982C>A	XP_011514488.1:p.Ala661Asp
XM_011516185.2:c.1682C>A	XP_011514487.1:p.Ala561Asp
XM_011516186.3:c.1982C>A	XP_011514488.1:p.Ala661Asp
XM_017012195.1:c.1832C>A	XP_016867684.1:p.Ala611Asp
XM_017012196.1:c.1805C>A	XP_016867685.1:p.Ala602Asp
NM_000238.4:c.1982C>A MANE Select	NP_000229.1:p.Ala661Asp
NM_001204798.2:c.962C>A	NP_001191727.1:p.Ala321Asp
NM_172057.3:c.962C>A	NP_742054.1:p.Ala321Asp