Canonical Allele Identifier: CA2778425831

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950181_150950182insCGCGAGCCGGGGCCC , CM000669.2:g.150950181_150950182insCGCGAGCCGGGGCCC	GRCh38
NC_000007.13:g.150647269_150647270insCGCGAGCCGGGGCCC , CM000669.1:g.150647269_150647270insCGCGAGCCGGGGCCC	GRCh37
NC_000007.12:g.150278202_150278203insCGCGAGCCGGGGCCC	NCBI36
NG_008916.1:g.32745_32746insGGGCCCCGGCTCGCG , LRG_288:g.32745_32746insGGGCCCCGGCTCGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1682_1683insGGGCCCCGGCTCGCG
ENST00000684241.1:n.3217_3218insGGGCCCCGGCTCGCG
ENST00000262186.10:c.2384_2385insGGGCCCCGGCTCGCG MANE Select	ENSP00000262186.5:p.Val795_Val796insGlyProGlySerArg
ENST00000330883.9:c.1364_1365insGGGCCCCGGCTCGCG	ENSP00000328531.4:p.Val455_Val456insGlyProGlySerArg
ENST00000262186.9:c.2384_2385insGGGCCCCGGCTCGCG	ENSP00000262186.5:p.Val795_Val796insGlyProGlySerArg
ENST00000330883.8:c.1364_1365insGGGCCCCGGCTCGCG	ENSP00000328531.4:p.Val455_Val456insGlyProGlySerArg
ENST00000430723.4:c.2036_2037insGGGCCCCGGCTCGCG	ENSP00000387657.4:p.Val679_Val680insGlyProGlySerArg
ENST00000461280.1:n.1671_1672insGGGCCCCGGCTCGCG
ENST00000473610.5:n.2016_2017insGGGCCCCGGCTCGCG
ENST00000532957.5:n.2607_2608insGGGCCCCGGCTCGCG
NM_000238.3:c.2384_2385insGGGCCCCGGCTCGCG , LRG_288t1:c.2384_2385insGGGCCCCGGCTCGCG	NP_000229.1:p.Val795_Val796insGlyProGlySerArg
NM_001204798.1:c.1364_1365insGGGCCCCGGCTCGCG	NP_001191727.1:p.Val455_Val456insGlyProGlySerArg
NM_172056.2:c.2384_2385insGGGCCCCGGCTCGCG , LRG_288t2:c.2384_2385insGGGCCCCGGCTCGCG	NP_742053.1:p.Val795_Val796insGlyProGlySerArg
NM_172057.2:c.1364_1365insGGGCCCCGGCTCGCG , LRG_288t3:c.1364_1365insGGGCCCCGGCTCGCG	NP_742054.1:p.Val455_Val456insGlyProGlySerArg
XM_011516185.1:c.2084_2085insGGGCCCCGGCTCGCG	XP_011514487.1:p.Val695_Val696insGlyProGlySerArg
XM_011516186.1:c.2384_2385insGGGCCCCGGCTCGCG	XP_011514488.1:p.Val795_Val796insGlyProGlySerArg
XM_011516185.2:c.2084_2085insGGGCCCCGGCTCGCG	XP_011514487.1:p.Val695_Val696insGlyProGlySerArg
XM_011516186.3:c.2384_2385insGGGCCCCGGCTCGCG	XP_011514488.1:p.Val795_Val796insGlyProGlySerArg
XM_017012195.1:c.2234_2235insGGGCCCCGGCTCGCG	XP_016867684.1:p.Val745_Val746insGlyProGlySerArg
XM_017012196.1:c.2207_2208insGGGCCCCGGCTCGCG	XP_016867685.1:p.Val736_Val737insGlyProGlySerArg
NM_000238.4:c.2384_2385insGGGCCCCGGCTCGCG MANE Select	NP_000229.1:p.Val795_Val796insGlyProGlySerArg
NM_001204798.2:c.1364_1365insGGGCCCCGGCTCGCG	NP_001191727.1:p.Val455_Val456insGlyProGlySerArg
NM_172057.3:c.1364_1365insGGGCCCCGGCTCGCG	NP_742054.1:p.Val455_Val456insGlyProGlySerArg