Canonical Allele Identifier: CA1139660310

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 958799
• ClinVar RCV Id: RCV001232026
• dbSNP Id: rs1801170310

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951648_150951649dup , CM000669.2:g.150951648_150951649dup	GRCh38
NC_000007.13:g.150648736_150648737dup , CM000669.1:g.150648736_150648737dup	GRCh37
NC_000007.12:g.150279669_150279670dup	NCBI36
NG_008916.1:g.31279_31280dup , LRG_288:g.31279_31280dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1043_1044dup
ENST00000684241.1:n.2578_2579dup
ENST00000262186.10:c.1745_1746dup MANE Select	ENSP00000262186.5:p.Ile583AlafsTer12
ENST00000330883.9:c.725_726dup	ENSP00000328531.4:p.Ile243AlafsTer12
ENST00000262186.9:c.1745_1746dup	ENSP00000262186.5:p.Ile583AlafsTer12
ENST00000330883.8:c.725_726dup	ENSP00000328531.4:p.Ile243AlafsTer12
ENST00000430723.4:c.1397_1398dup	ENSP00000387657.4:p.Ile467AlafsTer12
ENST00000461280.1:n.1032_1033dup
ENST00000473610.5:n.1050_1051dup
ENST00000532957.5:n.1968_1969dup
NM_000238.3:c.1745_1746dup , LRG_288t1:c.1745_1746dup	NP_000229.1:p.Ile583AlafsTer12
NM_001204798.1:c.725_726dup	NP_001191727.1:p.Ile243AlafsTer12
NM_172056.2:c.1745_1746dup , LRG_288t2:c.1745_1746dup	NP_742053.1:p.Ile583AlafsTer12
NM_172057.2:c.725_726dup , LRG_288t3:c.725_726dup	NP_742054.1:p.Ile243AlafsTer12
XM_011516185.1:c.1445_1446dup	XP_011514487.1:p.Ile483AlafsTer12
XM_011516186.1:c.1745_1746dup	XP_011514488.1:p.Ile583AlafsTer12
XM_011516185.2:c.1445_1446dup	XP_011514487.1:p.Ile483AlafsTer12
XM_011516186.3:c.1745_1746dup	XP_011514488.1:p.Ile583AlafsTer12
XM_017012195.1:c.1595_1596dup	XP_016867684.1:p.Ile533AlafsTer12
XM_017012196.1:c.1568_1569dup	XP_016867685.1:p.Ile524AlafsTer12
NM_000238.4:c.1745_1746dup MANE Select	NP_000229.1:p.Ile583AlafsTer12
NM_001204798.2:c.725_726dup	NP_001191727.1:p.Ile243AlafsTer12
NM_172057.3:c.725_726dup	NP_742054.1:p.Ile243AlafsTer12