Canonical Allele Identifier: CA2580077743

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2227986
• ClinVar RCV Id: RCV002707356

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947718dup , CM000669.2:g.150947718dup	GRCh38
NC_000007.13:g.150644806dup , CM000669.1:g.150644806dup	GRCh37
NC_000007.12:g.150275739dup	NCBI36
NG_008916.1:g.35213dup , LRG_288:g.35213dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3690dup
ENST00000262186.10:c.2857dup MANE Select	ENSP00000262186.5:p.Leu953ProfsTer?
ENST00000330883.9:c.1837dup	ENSP00000328531.4:p.Leu613ProfsTer?
ENST00000262186.9:c.2857dup	ENSP00000262186.5:p.Leu953ProfsTer?
ENST00000330883.8:c.1837dup	ENSP00000328531.4:p.Leu613ProfsTer?
NM_000238.3:c.2857dup , LRG_288t1:c.2857dup	NP_000229.1:p.Leu953ProfsTer?
NM_172057.2:c.1837dup , LRG_288t3:c.1837dup	NP_742054.1:p.Leu613ProfsTer?
XM_011516185.1:c.2557dup	XP_011514487.1:p.Leu853ProfsTer?
XM_011516186.1:c.2693-23dup	XP_011514488.1:n.2693-23dup
XM_011516185.2:c.2557dup	XP_011514487.1:p.Leu853ProfsTer?
XM_011516186.3:c.2693-23dup	XP_011514488.1:n.2693-23dup
XM_017012195.1:c.2707dup	XP_016867684.1:p.Leu903ProfsTer?
XM_017012196.1:c.2680dup	XP_016867685.1:p.Leu894ProfsTer?
NM_000238.4:c.2857dup MANE Select	NP_000229.1:p.Leu953ProfsTer?
NM_172057.3:c.1837dup	NP_742054.1:p.Leu613ProfsTer?