Canonical Allele Identifier: CA369859049

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951767G>T , CM000669.2:g.150951767G>T	GRCh38
NC_000007.13:g.150648855G>T , CM000669.1:g.150648855G>T	GRCh37
NC_000007.12:g.150279788G>T	NCBI36
NG_008916.1:g.31160C>A , LRG_288:g.31160C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1626C>A MANE Select	NP_000229.1:p.Tyr542Ter
ENST00000262186.10:c.1626C>A MANE Select	ENSP00000262186.5:p.Tyr542Ter
NM_000238.3:c.1626C>A , LRG_288t1:c.1626C>A	NP_000229.1:p.Tyr542Ter
NM_001204798.1:c.606C>A	NP_001191727.1:p.Tyr202Ter
NM_001204798.2:c.606C>A	NP_001191727.1:p.Tyr202Ter
NM_172056.2:c.1626C>A , LRG_288t2:c.1626C>A	NP_742053.1:p.Tyr542Ter
NM_172057.2:c.606C>A , LRG_288t3:c.606C>A	NP_742054.1:p.Tyr202Ter
NM_172057.3:c.606C>A	NP_742054.1:p.Tyr202Ter
ENST00000262186.9:c.1626C>A	ENSP00000262186.5:p.Tyr542Ter
ENST00000330883.8:c.606C>A	ENSP00000328531.4:p.Tyr202Ter
ENST00000330883.9:c.606C>A	ENSP00000328531.4:p.Tyr202Ter
ENST00000430723.4:c.1278C>A	ENSP00000387657.4:p.Tyr426Ter
ENST00000461280.1:n.913C>A
ENST00000461280.2:n.924C>A
ENST00000473610.5:n.931C>A
ENST00000532957.5:n.1849C>A
ENST00000684116.1:n.519C>A
ENST00000684241.1:n.2459C>A
XM_011516185.1:c.1326C>A	XP_011514487.1:p.Tyr442Ter
XM_011516185.2:c.1326C>A	XP_011514487.1:p.Tyr442Ter
XM_011516186.1:c.1626C>A	XP_011514488.1:p.Tyr542Ter
XM_011516186.3:c.1626C>A	XP_011514488.1:p.Tyr542Ter
XM_017012195.1:c.1476C>A	XP_016867684.1:p.Tyr492Ter
XM_017012196.1:c.1449C>A	XP_016867685.1:p.Tyr483Ter