Canonical Allele Identifier: CA2580077791

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1994292
• ClinVar RCV Id: RCV002806746

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950277_150950278dup , CM000669.2:g.150950277_150950278dup	GRCh38
NC_000007.13:g.150647365_150647366dup , CM000669.1:g.150647365_150647366dup	GRCh37
NC_000007.12:g.150278298_150278299dup	NCBI36
NG_008916.1:g.32650_32651dup , LRG_288:g.32650_32651dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1587_1588dup
ENST00000684241.1:n.3122_3123dup
ENST00000262186.10:c.2289_2290dup MANE Select	ENSP00000262186.5:p.Pro764HisfsTer?
ENST00000330883.9:c.1269_1270dup	ENSP00000328531.4:p.Pro424HisfsTer?
ENST00000262186.9:c.2289_2290dup	ENSP00000262186.5:p.Pro764HisfsTer?
ENST00000330883.8:c.1269_1270dup	ENSP00000328531.4:p.Pro424HisfsTer?
ENST00000430723.4:c.1941_1942dup	ENSP00000387657.4:p.Pro648HisfsTer?
ENST00000461280.1:n.1576_1577dup
ENST00000473610.5:n.1921_1922dup
ENST00000532957.5:n.2512_2513dup
NM_000238.3:c.2289_2290dup , LRG_288t1:c.2289_2290dup	NP_000229.1:p.Pro764HisfsTer?
NM_001204798.1:c.1269_1270dup	NP_001191727.1:p.Pro424HisfsTer?
NM_172056.2:c.2289_2290dup , LRG_288t2:c.2289_2290dup	NP_742053.1:p.Pro764HisfsTer?
NM_172057.2:c.1269_1270dup , LRG_288t3:c.1269_1270dup	NP_742054.1:p.Pro424HisfsTer?
XM_011516185.1:c.1989_1990dup	XP_011514487.1:p.Pro664HisfsTer?
XM_011516186.1:c.2289_2290dup	XP_011514488.1:p.Pro764HisfsTer?
XM_011516185.2:c.1989_1990dup	XP_011514487.1:p.Pro664HisfsTer?
XM_011516186.3:c.2289_2290dup	XP_011514488.1:p.Pro764HisfsTer?
XM_017012195.1:c.2139_2140dup	XP_016867684.1:p.Pro714HisfsTer?
XM_017012196.1:c.2112_2113dup	XP_016867685.1:p.Pro705HisfsTer?
NM_000238.4:c.2289_2290dup MANE Select	NP_000229.1:p.Pro764HisfsTer?
NM_001204798.2:c.1269_1270dup	NP_001191727.1:p.Pro424HisfsTer?
NM_172057.3:c.1269_1270dup	NP_742054.1:p.Pro424HisfsTer?