Canonical Allele Identifier: CA2580614282

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2078663
• ClinVar RCV Id: RCV002988753

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950265_150950266dup , CM000669.2:g.150950265_150950266dup	GRCh38
NC_000007.13:g.150647353_150647354dup , CM000669.1:g.150647353_150647354dup	GRCh37
NC_000007.12:g.150278286_150278287dup	NCBI36
NG_008916.1:g.32665_32666dup , LRG_288:g.32665_32666dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1602_1603dup
ENST00000684241.1:n.3137_3138dup
ENST00000262186.10:c.2304_2305dup MANE Select	ENSP00000262186.5:p.Leu769HisfsTer?
ENST00000330883.9:c.1284_1285dup	ENSP00000328531.4:p.Leu429HisfsTer?
ENST00000262186.9:c.2304_2305dup	ENSP00000262186.5:p.Leu769HisfsTer?
ENST00000330883.8:c.1284_1285dup	ENSP00000328531.4:p.Leu429HisfsTer?
ENST00000430723.4:c.1956_1957dup	ENSP00000387657.4:p.Leu653HisfsTer?
ENST00000461280.1:n.1591_1592dup
ENST00000473610.5:n.1936_1937dup
ENST00000532957.5:n.2527_2528dup
NM_000238.3:c.2304_2305dup , LRG_288t1:c.2304_2305dup	NP_000229.1:p.Leu769HisfsTer?
NM_001204798.1:c.1284_1285dup	NP_001191727.1:p.Leu429HisfsTer?
NM_172056.2:c.2304_2305dup , LRG_288t2:c.2304_2305dup	NP_742053.1:p.Leu769HisfsTer?
NM_172057.2:c.1284_1285dup , LRG_288t3:c.1284_1285dup	NP_742054.1:p.Leu429HisfsTer?
XM_011516185.1:c.2004_2005dup	XP_011514487.1:p.Leu669HisfsTer?
XM_011516186.1:c.2304_2305dup	XP_011514488.1:p.Leu769HisfsTer?
XM_011516185.2:c.2004_2005dup	XP_011514487.1:p.Leu669HisfsTer?
XM_011516186.3:c.2304_2305dup	XP_011514488.1:p.Leu769HisfsTer?
XM_017012195.1:c.2154_2155dup	XP_016867684.1:p.Leu719HisfsTer?
XM_017012196.1:c.2127_2128dup	XP_016867685.1:p.Leu710HisfsTer?
NM_000238.4:c.2304_2305dup MANE Select	NP_000229.1:p.Leu769HisfsTer?
NM_001204798.2:c.1284_1285dup	NP_001191727.1:p.Leu429HisfsTer?
NM_172057.3:c.1284_1285dup	NP_742054.1:p.Leu429HisfsTer?