Canonical Allele Identifier: CA2695208699

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950215del , CM000669.2:g.150950215del	GRCh38
NC_000007.13:g.150647303del , CM000669.1:g.150647303del	GRCh37
NC_000007.12:g.150278236del	NCBI36
NG_008916.1:g.32715del , LRG_288:g.32715del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1652del
ENST00000684241.1:n.3187del
ENST00000262186.10:c.2354del MANE Select	ENSP00000262186.5:p.Gly785AlafsTer25
ENST00000330883.9:c.1334del	ENSP00000328531.4:p.Gly445AlafsTer25
ENST00000262186.9:c.2354del	ENSP00000262186.5:p.Gly785AlafsTer25
ENST00000330883.8:c.1334del	ENSP00000328531.4:p.Gly445AlafsTer25
ENST00000430723.4:c.2006del	ENSP00000387657.4:p.Gly669AlafsTer?
ENST00000461280.1:n.1641del
ENST00000473610.5:n.1986del
ENST00000532957.5:n.2577del
NM_000238.3:c.2354del , LRG_288t1:c.2354del	NP_000229.1:p.Gly785AlafsTer25
NM_001204798.1:c.1334del	NP_001191727.1:p.Gly445AlafsTer?
NM_172056.2:c.2354del , LRG_288t2:c.2354del	NP_742053.1:p.Gly785AlafsTer?
NM_172057.2:c.1334del , LRG_288t3:c.1334del	NP_742054.1:p.Gly445AlafsTer25
XM_011516185.1:c.2054del	XP_011514487.1:p.Gly685AlafsTer25
XM_011516186.1:c.2354del	XP_011514488.1:p.Gly785AlafsTer25
XM_011516185.2:c.2054del	XP_011514487.1:p.Gly685AlafsTer25
XM_011516186.3:c.2354del	XP_011514488.1:p.Gly785AlafsTer25
XM_017012195.1:c.2204del	XP_016867684.1:p.Gly735AlafsTer25
XM_017012196.1:c.2177del	XP_016867685.1:p.Gly726AlafsTer25
NM_000238.4:c.2354del MANE Select	NP_000229.1:p.Gly785AlafsTer25
NM_001204798.2:c.1334del	NP_001191727.1:p.Gly445AlafsTer?
NM_172057.3:c.1334del	NP_742054.1:p.Gly445AlafsTer25