Canonical Allele Identifier: CA2695208829

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949012dup , CM000669.2:g.150949012dup	GRCh38
NC_000007.13:g.150646100dup , CM000669.1:g.150646100dup	GRCh37
NC_000007.12:g.150277033dup	NCBI36
NG_008916.1:g.33915dup , LRG_288:g.33915dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3269dup
ENST00000262186.10:c.2436dup MANE Select	ENSP00000262186.5:p.Ala813CysfsTer17
ENST00000330883.9:c.1416dup	ENSP00000328531.4:p.Ala473CysfsTer17
ENST00000262186.9:c.2436dup	ENSP00000262186.5:p.Ala813CysfsTer17
ENST00000330883.8:c.1416dup	ENSP00000328531.4:p.Ala473CysfsTer17
NM_000238.3:c.2436dup , LRG_288t1:c.2436dup	NP_000229.1:p.Ala813CysfsTer17
NM_172057.2:c.1416dup , LRG_288t3:c.1416dup	NP_742054.1:p.Ala473CysfsTer17
XM_011516185.1:c.2136dup	XP_011514487.1:p.Ala713CysfsTer17
XM_011516186.1:c.2436dup	XP_011514488.1:p.Ala813CysfsTer17
XM_011516185.2:c.2136dup	XP_011514487.1:p.Ala713CysfsTer17
XM_011516186.3:c.2436dup	XP_011514488.1:p.Ala813CysfsTer17
XM_017012195.1:c.2286dup	XP_016867684.1:p.Ala763CysfsTer17
XM_017012196.1:c.2259dup	XP_016867685.1:p.Ala754CysfsTer17
NM_000238.4:c.2436dup MANE Select	NP_000229.1:p.Ala813CysfsTer17
NM_172057.3:c.1416dup	NP_742054.1:p.Ala473CysfsTer17