Canonical Allele Identifier: CA2695208703

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950322del , CM000669.2:g.150950322del	GRCh38
NC_000007.13:g.150647410del , CM000669.1:g.150647410del	GRCh37
NC_000007.12:g.150278343del	NCBI36
NG_008916.1:g.32607del , LRG_288:g.32607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1544del
ENST00000684241.1:n.3079del
ENST00000262186.10:c.2246del MANE Select	ENSP00000262186.5:p.Gly749AlafsTer8
ENST00000330883.9:c.1226del	ENSP00000328531.4:p.Gly409AlafsTer8
ENST00000262186.9:c.2246del	ENSP00000262186.5:p.Gly749AlafsTer8
ENST00000330883.8:c.1226del	ENSP00000328531.4:p.Gly409AlafsTer8
ENST00000430723.4:c.1898del	ENSP00000387657.4:p.Gly633AlafsTer8
ENST00000461280.1:n.1533del
ENST00000473610.5:n.1878del
ENST00000532957.5:n.2469del
NM_000238.3:c.2246del , LRG_288t1:c.2246del	NP_000229.1:p.Gly749AlafsTer8
NM_001204798.1:c.1226del	NP_001191727.1:p.Gly409AlafsTer8
NM_172056.2:c.2246del , LRG_288t2:c.2246del	NP_742053.1:p.Gly749AlafsTer8
NM_172057.2:c.1226del , LRG_288t3:c.1226del	NP_742054.1:p.Gly409AlafsTer8
XM_011516185.1:c.1946del	XP_011514487.1:p.Gly649AlafsTer8
XM_011516186.1:c.2246del	XP_011514488.1:p.Gly749AlafsTer8
XM_011516185.2:c.1946del	XP_011514487.1:p.Gly649AlafsTer8
XM_011516186.3:c.2246del	XP_011514488.1:p.Gly749AlafsTer8
XM_017012195.1:c.2096del	XP_016867684.1:p.Gly699AlafsTer8
XM_017012196.1:c.2069del	XP_016867685.1:p.Gly690AlafsTer8
NM_000238.4:c.2246del MANE Select	NP_000229.1:p.Gly749AlafsTer8
NM_001204798.2:c.1226del	NP_001191727.1:p.Gly409AlafsTer8
NM_172057.3:c.1226del	NP_742054.1:p.Gly409AlafsTer8