Canonical Allele Identifier: CA2685603674

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955503-T-TGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955507_150955509dup , CM000669.2:g.150955507_150955509dup	GRCh38
NC_000007.13:g.150652595_150652597dup , CM000669.1:g.150652595_150652597dup	GRCh37
NC_000007.12:g.150283528_150283530dup	NCBI36
NG_008916.1:g.27421_27423dup , LRG_288:g.27421_27423dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.316_318dup
ENST00000684241.1:n.1961+1785_1961+1787dup
ENST00000262186.10:c.1128+1785_1128+1787dup MANE Select	ENSP00000262186.5:n.1128+1785_1128+1787dup
ENST00000330883.9:c.-3_-1dup	ENSP00000328531.4:p.Met1insSer
ENST00000262186.9:c.1128+1785_1128+1787dup	ENSP00000262186.5:n.1128+1785_1128+1787dup
ENST00000330883.8:c.-3_-1dup	ENSP00000328531.4:p.Met1insSer
ENST00000430723.4:c.780+1785_780+1787dup	ENSP00000387657.4:n.780+1785_780+1787dup
ENST00000461280.1:n.305_307dup
ENST00000473610.5:n.323_325dup
ENST00000532957.5:n.1351+1785_1351+1787dup
NM_000238.3:c.1128+1785_1128+1787dup , LRG_288t1:c.1128+1785_1128+1787dup	NP_000229.1:n.1128+1785_1128+1787dup
NM_001204798.1:c.-3_-1dup	NP_001191727.1:p.Met1insSer
NM_172056.2:c.1128+1785_1128+1787dup , LRG_288t2:c.1128+1785_1128+1787dup	NP_742053.1:n.1128+1785_1128+1787dup
NM_172057.2:c.-3_-1dup , LRG_288t3:c.-3_-1dup	NP_742054.1:p.Met1insSer
XM_011516185.1:c.828+1785_828+1787dup	XP_011514487.1:n.828+1785_828+1787dup
XM_011516186.1:c.1128+1785_1128+1787dup	XP_011514488.1:n.1128+1785_1128+1787dup
XM_011516185.2:c.828+1785_828+1787dup	XP_011514487.1:n.828+1785_828+1787dup
XM_011516186.3:c.1128+1785_1128+1787dup	XP_011514488.1:n.1128+1785_1128+1787dup
XM_017012195.1:c.978+1785_978+1787dup	XP_016867684.1:n.978+1785_978+1787dup
XM_017012196.1:c.951+1785_951+1787dup	XP_016867685.1:n.951+1785_951+1787dup
NM_000238.4:c.1128+1785_1128+1787dup MANE Select	NP_000229.1:n.1128+1785_1128+1787dup
NM_001204798.2:c.-3_-1dup	NP_001191727.1:p.Met1insSer
NM_172057.3:c.-3_-1dup	NP_742054.1:p.Met1insSer