Canonical Allele Identifier: CA369857616

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648122G>T (hg19) ; chr7:g.150951034G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951034G>T , CM000669.2:g.150951034G>T	GRCh38
NC_000007.13:g.150648122G>T , CM000669.1:g.150648122G>T	GRCh37
NC_000007.12:g.150279055G>T	NCBI36
NG_008916.1:g.31893C>A , LRG_288:g.31893C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1330C>A
ENST00000683359.1:n.156C>A
ENST00000684241.1:n.2865C>A
ENST00000262186.10:c.2032C>A MANE Select	ENSP00000262186.5:p.Leu678Met
ENST00000330883.9:c.1012C>A	ENSP00000328531.4:p.Leu338Met
ENST00000262186.9:c.2032C>A	ENSP00000262186.5:p.Leu678Met
ENST00000330883.8:c.1012C>A	ENSP00000328531.4:p.Leu338Met
ENST00000430723.4:c.1684C>A	ENSP00000387657.4:p.Leu562Met
ENST00000461280.1:n.1319C>A
ENST00000473610.5:n.1664C>A
ENST00000532957.5:n.2255C>A
NM_000238.3:c.2032C>A , LRG_288t1:c.2032C>A	NP_000229.1:p.Leu678Met
NM_001204798.1:c.1012C>A	NP_001191727.1:p.Leu338Met
NM_172056.2:c.2032C>A , LRG_288t2:c.2032C>A	NP_742053.1:p.Leu678Met
NM_172057.2:c.1012C>A , LRG_288t3:c.1012C>A	NP_742054.1:p.Leu338Met
XM_011516185.1:c.1732C>A	XP_011514487.1:p.Leu578Met
XM_011516186.1:c.2032C>A	XP_011514488.1:p.Leu678Met
XM_011516185.2:c.1732C>A	XP_011514487.1:p.Leu578Met
XM_011516186.3:c.2032C>A	XP_011514488.1:p.Leu678Met
XM_017012195.1:c.1882C>A	XP_016867684.1:p.Leu628Met
XM_017012196.1:c.1855C>A	XP_016867685.1:p.Leu619Met
NM_000238.4:c.2032C>A MANE Select	NP_000229.1:p.Leu678Met
NM_001204798.2:c.1012C>A	NP_001191727.1:p.Leu338Met
NM_172057.3:c.1012C>A	NP_742054.1:p.Leu338Met