Canonical Allele Identifier: CA2695208701

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950266del , CM000669.2:g.150950266del	GRCh38
NC_000007.13:g.150647354del , CM000669.1:g.150647354del	GRCh37
NC_000007.12:g.150278287del	NCBI36
NG_008916.1:g.32661del , LRG_288:g.32661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1598del
ENST00000684241.1:n.3133del
ENST00000262186.10:c.2300del MANE Select	ENSP00000262186.5:p.Asp767AlafsTer?
ENST00000330883.9:c.1280del	ENSP00000328531.4:p.Asp427AlafsTer?
ENST00000262186.9:c.2300del	ENSP00000262186.5:p.Asp767AlafsTer?
ENST00000330883.8:c.1280del	ENSP00000328531.4:p.Asp427AlafsTer?
ENST00000430723.4:c.1952del	ENSP00000387657.4:p.Asp651AlafsTer?
ENST00000461280.1:n.1587del
ENST00000473610.5:n.1932del
ENST00000532957.5:n.2523del
NM_000238.3:c.2300del , LRG_288t1:c.2300del	NP_000229.1:p.Asp767AlafsTer?
NM_001204798.1:c.1280del	NP_001191727.1:p.Asp427AlafsTer?
NM_172056.2:c.2300del , LRG_288t2:c.2300del	NP_742053.1:p.Asp767AlafsTer?
NM_172057.2:c.1280del , LRG_288t3:c.1280del	NP_742054.1:p.Asp427AlafsTer?
XM_011516185.1:c.2000del	XP_011514487.1:p.Asp667AlafsTer?
XM_011516186.1:c.2300del	XP_011514488.1:p.Asp767AlafsTer?
XM_011516185.2:c.2000del	XP_011514487.1:p.Asp667AlafsTer?
XM_011516186.3:c.2300del	XP_011514488.1:p.Asp767AlafsTer?
XM_017012195.1:c.2150del	XP_016867684.1:p.Asp717AlafsTer?
XM_017012196.1:c.2123del	XP_016867685.1:p.Asp708AlafsTer?
NM_000238.4:c.2300del MANE Select	NP_000229.1:p.Asp767AlafsTer?
NM_001204798.2:c.1280del	NP_001191727.1:p.Asp427AlafsTer?
NM_172057.3:c.1280del	NP_742054.1:p.Asp427AlafsTer?