Canonical Allele Identifier: CA2499218787

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1098796
• ClinVar RCV Id: RCV001842028
• dbSNP Id: rs2116931511

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3792dup
ENST00000262186.10:c.2959dup MANE Select	ENSP00000262186.5:p.Leu987ProfsTer?
ENST00000330883.9:c.1939dup	ENSP00000328531.4:p.Leu647ProfsTer?
ENST00000262186.9:c.2959dup	ENSP00000262186.5:p.Leu987ProfsTer?
ENST00000330883.8:c.1939dup	ENSP00000328531.4:p.Leu647ProfsTer?
NM_000238.3:c.2959dup , LRG_288t1:c.2959dup	NP_000229.1:p.Leu987ProfsTer?
NM_172057.2:c.1939dup , LRG_288t3:c.1939dup	NP_742054.1:p.Leu647ProfsTer?
XM_011516185.1:c.2659dup	XP_011514487.1:p.Leu887ProfsTer?
XM_011516186.1:c.*39dup	XP_011514488.1:n.*39dup
XM_011516185.2:c.2659dup	XP_011514487.1:p.Leu887ProfsTer?
XM_011516186.3:c.*39dup	XP_011514488.1:n.*39dup
XM_017012195.1:c.2809dup	XP_016867684.1:p.Leu937ProfsTer?
XM_017012196.1:c.2782dup	XP_016867685.1:p.Leu928ProfsTer?
NM_000238.4:c.2959dup MANE Select	NP_000229.1:p.Leu987ProfsTer?
NM_172057.3:c.1939dup	NP_742054.1:p.Leu647ProfsTer?