Canonical Allele Identifier: CA1752428051

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947134_150947135delinsGA , CM000669.2:g.150947134_150947135delinsGA	GRCh38
NC_000007.13:g.150644222_150644223delinsGA , CM000669.1:g.150644222_150644223delinsGA	GRCh37
NC_000007.12:g.150275155_150275156delinsGA	NCBI36
NG_008916.1:g.35792_35793delinsTC , LRG_288:g.35792_35793delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3986-81_3986-80delinsTC
ENST00000262186.10:c.3153-81_3153-80delinsTC MANE Select	ENSP00000262186.5:n.3153-81_3153-80delinsTC
ENST00000330883.9:c.2133-81_2133-80delinsTC	ENSP00000328531.4:n.2133-81_2133-80delinsTC
ENST00000262186.9:c.3153-81_3153-80delinsTC	ENSP00000262186.5:n.3153-81_3153-80delinsTC
ENST00000330883.8:c.2133-81_2133-80delinsTC	ENSP00000328531.4:n.2133-81_2133-80delinsTC
NM_000238.3:c.3153-81_3153-80delinsTC , LRG_288t1:c.3153-81_3153-80delinsTC	NP_000229.1:n.3153-81_3153-80delinsTC
NM_172057.2:c.2133-81_2133-80delinsTC , LRG_288t3:c.2133-81_2133-80delinsTC	NP_742054.1:n.2133-81_2133-80delinsTC
XM_011516185.1:c.2853-81_2853-80delinsTC	XP_011514487.1:n.2853-81_2853-80delinsTC
XM_011516185.2:c.2853-81_2853-80delinsTC	XP_011514487.1:n.2853-81_2853-80delinsTC
XM_017012195.1:c.3003-81_3003-80delinsTC	XP_016867684.1:n.3003-81_3003-80delinsTC
XM_017012196.1:c.2976-81_2976-80delinsTC	XP_016867685.1:n.2976-81_2976-80delinsTC
NM_000238.4:c.3153-81_3153-80delinsTC MANE Select	NP_000229.1:n.3153-81_3153-80delinsTC
NM_172057.3:c.2133-81_2133-80delinsTC	NP_742054.1:n.2133-81_2133-80delinsTC