Canonical Allele Identifier: CA1752414386

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955207_150955208delinsTG , CM000669.2:g.150955207_150955208delinsTG	GRCh38
NC_000007.13:g.150652295_150652296delinsTG , CM000669.1:g.150652295_150652296delinsTG	GRCh37
NC_000007.12:g.150283228_150283229delinsTG	NCBI36
NG_008916.1:g.27719_27720delinsCA , LRG_288:g.27719_27720delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.426+188_426+189delinsCA
ENST00000684241.1:n.1961+2083_1961+2084delinsCA
ENST00000262186.10:c.1128+2083_1128+2084delinsCA MANE Select	ENSP00000262186.5:n.1128+2083_1128+2084delinsCA
ENST00000330883.9:c.108+188_108+189delinsCA	ENSP00000328531.4:n.108+188_108+189delinsCA
ENST00000262186.9:c.1128+2083_1128+2084delinsCA	ENSP00000262186.5:n.1128+2083_1128+2084delinsCA
ENST00000330883.8:c.108+188_108+189delinsCA	ENSP00000328531.4:n.108+188_108+189delinsCA
ENST00000430723.4:c.780+2083_780+2084delinsCA	ENSP00000387657.4:n.780+2083_780+2084delinsCA
ENST00000461280.1:n.415+188_415+189delinsCA
ENST00000473610.5:n.433+188_433+189delinsCA
ENST00000532957.5:n.1351+2083_1351+2084delinsCA
NM_000238.3:c.1128+2083_1128+2084delinsCA , LRG_288t1:c.1128+2083_1128+2084delinsCA	NP_000229.1:n.1128+2083_1128+2084delinsCA
NM_001204798.1:c.108+188_108+189delinsCA	NP_001191727.1:n.108+188_108+189delinsCA
NM_172056.2:c.1128+2083_1128+2084delinsCA , LRG_288t2:c.1128+2083_1128+2084delinsCA	NP_742053.1:n.1128+2083_1128+2084delinsCA
NM_172057.2:c.108+188_108+189delinsCA , LRG_288t3:c.108+188_108+189delinsCA	NP_742054.1:n.108+188_108+189delinsCA
XM_011516185.1:c.828+2083_828+2084delinsCA	XP_011514487.1:n.828+2083_828+2084delinsCA
XM_011516186.1:c.1128+2083_1128+2084delinsCA	XP_011514488.1:n.1128+2083_1128+2084delinsCA
XM_011516185.2:c.828+2083_828+2084delinsCA	XP_011514487.1:n.828+2083_828+2084delinsCA
XM_011516186.3:c.1128+2083_1128+2084delinsCA	XP_011514488.1:n.1128+2083_1128+2084delinsCA
XM_017012195.1:c.978+2083_978+2084delinsCA	XP_016867684.1:n.978+2083_978+2084delinsCA
XM_017012196.1:c.951+2083_951+2084delinsCA	XP_016867685.1:n.951+2083_951+2084delinsCA
NM_000238.4:c.1128+2083_1128+2084delinsCA MANE Select	NP_000229.1:n.1128+2083_1128+2084delinsCA
NM_001204798.2:c.108+188_108+189delinsCA	NP_001191727.1:n.108+188_108+189delinsCA
NM_172057.3:c.108+188_108+189delinsCA	NP_742054.1:n.108+188_108+189delinsCA