Canonical Allele Identifier: CA658761315

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947616del , CM000669.2:g.150947616del	GRCh38
NC_000007.13:g.150644704del , CM000669.1:g.150644704del	GRCh37
NC_000007.12:g.150275637del	NCBI36
NG_008916.1:g.35315del , LRG_288:g.35315del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3792del
ENST00000262186.10:c.2959del MANE Select	ENSP00000262186.5:p.Leu987CysfsTer?
ENST00000330883.9:c.1939del	ENSP00000328531.4:p.Leu647CysfsTer?
ENST00000262186.9:c.2959del	ENSP00000262186.5:p.Leu987CysfsTer?
ENST00000330883.8:c.1939del	ENSP00000328531.4:p.Leu647CysfsTer?
NM_000238.3:c.2959del , LRG_288t1:c.2959del	NP_000229.1:p.Leu987CysfsTer?
NM_172057.2:c.1939del , LRG_288t3:c.1939del	NP_742054.1:p.Leu647CysfsTer?
XM_011516185.1:c.2659del	XP_011514487.1:p.Leu887CysfsTer?
XM_011516186.1:c.*39del	XP_011514488.1:n.*39del
XM_011516185.2:c.2659del	XP_011514487.1:p.Leu887CysfsTer?
XM_011516186.3:c.*39del	XP_011514488.1:n.*39del
XM_017012195.1:c.2809del	XP_016867684.1:p.Leu937CysfsTer?
XM_017012196.1:c.2782del	XP_016867685.1:p.Leu928CysfsTer?
NM_000238.4:c.2959del MANE Select	NP_000229.1:p.Leu987CysfsTer?
NM_172057.3:c.1939del	NP_742054.1:p.Leu647CysfsTer?