Canonical Allele Identifier: CA369859061

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951769A>G , CM000669.2:g.150951769A>G	GRCh38
NC_000007.13:g.150648857A>G , CM000669.1:g.150648857A>G	GRCh37
NC_000007.12:g.150279790A>G	NCBI36
NG_008916.1:g.31158T>C , LRG_288:g.31158T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1624T>C MANE Select	NP_000229.1:p.Tyr542His
ENST00000262186.10:c.1624T>C MANE Select	ENSP00000262186.5:p.Tyr542His
NM_000238.3:c.1624T>C , LRG_288t1:c.1624T>C	NP_000229.1:p.Tyr542His
NM_001204798.1:c.604T>C	NP_001191727.1:p.Tyr202His
NM_001204798.2:c.604T>C	NP_001191727.1:p.Tyr202His
NM_172056.2:c.1624T>C , LRG_288t2:c.1624T>C	NP_742053.1:p.Tyr542His
NM_172057.2:c.604T>C , LRG_288t3:c.604T>C	NP_742054.1:p.Tyr202His
NM_172057.3:c.604T>C	NP_742054.1:p.Tyr202His
ENST00000262186.9:c.1624T>C	ENSP00000262186.5:p.Tyr542His
ENST00000330883.8:c.604T>C	ENSP00000328531.4:p.Tyr202His
ENST00000330883.9:c.604T>C	ENSP00000328531.4:p.Tyr202His
ENST00000430723.4:c.1276T>C	ENSP00000387657.4:p.Tyr426His
ENST00000461280.1:n.911T>C
ENST00000461280.2:n.922T>C
ENST00000473610.5:n.929T>C
ENST00000532957.5:n.1847T>C
ENST00000684116.1:n.517T>C
ENST00000684241.1:n.2457T>C
XM_011516185.1:c.1324T>C	XP_011514487.1:p.Tyr442His
XM_011516185.2:c.1324T>C	XP_011514487.1:p.Tyr442His
XM_011516186.1:c.1624T>C	XP_011514488.1:p.Tyr542His
XM_011516186.3:c.1624T>C	XP_011514488.1:p.Tyr542His
XM_017012195.1:c.1474T>C	XP_016867684.1:p.Tyr492His
XM_017012196.1:c.1447T>C	XP_016867685.1:p.Tyr483His