Canonical Allele Identifier: CA1752434196

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950981_150950982delinsCT , CM000669.2:g.150950981_150950982delinsCT	GRCh38
NC_000007.13:g.150648069_150648070delinsCT , CM000669.1:g.150648069_150648070delinsCT	GRCh37
NC_000007.12:g.150279002_150279003delinsCT	NCBI36
NG_008916.1:g.31945_31946delinsAG , LRG_288:g.31945_31946delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1382_1383delinsAG
ENST00000683359.1:n.208_209delinsAG
ENST00000684241.1:n.2917_2918delinsAG
ENST00000262186.10:c.2084_2085delinsAG MANE Select	ENSP00000262186.5:p.Gln695=
ENST00000330883.9:c.1064_1065delinsAG	ENSP00000328531.4:p.Gln355=
ENST00000262186.9:c.2084_2085delinsAG	ENSP00000262186.5:p.Gln695=
ENST00000330883.8:c.1064_1065delinsAG	ENSP00000328531.4:p.Gln355=
ENST00000430723.4:c.1736_1737delinsAG	ENSP00000387657.4:p.Gln579=
ENST00000461280.1:n.1371_1372delinsAG
ENST00000473610.5:n.1716_1717delinsAG
ENST00000532957.5:n.2307_2308delinsAG
NM_000238.3:c.2084_2085delinsAG , LRG_288t1:c.2084_2085delinsAG	NP_000229.1:p.Gln695=
NM_001204798.1:c.1064_1065delinsAG	NP_001191727.1:p.Gln355=
NM_172056.2:c.2084_2085delinsAG , LRG_288t2:c.2084_2085delinsAG	NP_742053.1:p.Gln695=
NM_172057.2:c.1064_1065delinsAG , LRG_288t3:c.1064_1065delinsAG	NP_742054.1:p.Gln355=
XM_011516185.1:c.1784_1785delinsAG	XP_011514487.1:p.Gln595=
XM_011516186.1:c.2084_2085delinsAG	XP_011514488.1:p.Gln695=
XM_011516185.2:c.1784_1785delinsAG	XP_011514487.1:p.Gln595=
XM_011516186.3:c.2084_2085delinsAG	XP_011514488.1:p.Gln695=
XM_017012195.1:c.1934_1935delinsAG	XP_016867684.1:p.Gln645=
XM_017012196.1:c.1907_1908delinsAG	XP_016867685.1:p.Gln636=
NM_000238.4:c.2084_2085delinsAG MANE Select	NP_000229.1:p.Gln695=
NM_001204798.2:c.1064_1065delinsAG	NP_001191727.1:p.Gln355=
NM_172057.3:c.1064_1065delinsAG	NP_742054.1:p.Gln355=