Canonical Allele Identifier: CA071191

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950259_150950260delinsAT , CM000669.2:g.150950259_150950260delinsAT	GRCh38
NC_000007.13:g.150647347_150647348delinsAT , CM000669.1:g.150647347_150647348delinsAT	GRCh37
NC_000007.12:g.150278280_150278281delinsAT	NCBI36
NG_008916.1:g.32667_32668delinsAT , LRG_288:g.32667_32668delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1604_1605delinsAT
ENST00000684241.1:n.3139_3140delinsAT
ENST00000262186.10:c.2306_2307delinsAT MANE Select	ENSP00000262186.5:p.Leu769His
ENST00000330883.9:c.1286_1287delinsAT	ENSP00000328531.4:p.Leu429His
ENST00000262186.9:c.2306_2307delinsAT	ENSP00000262186.5:p.Leu769His
ENST00000330883.8:c.1286_1287delinsAT	ENSP00000328531.4:p.Leu429His
ENST00000430723.4:c.1958_1959delinsAT	ENSP00000387657.4:p.Leu653His
ENST00000461280.1:n.1593_1594delinsAT
ENST00000473610.5:n.1938_1939delinsAT
ENST00000532957.5:n.2529_2530delinsAT
NM_000238.3:c.2306_2307delinsAT , LRG_288t1:c.2306_2307delinsAT	NP_000229.1:p.Leu769His
NM_001204798.1:c.1286_1287delinsAT	NP_001191727.1:p.Leu429His
NM_172056.2:c.2306_2307delinsAT , LRG_288t2:c.2306_2307delinsAT	NP_742053.1:p.Leu769His
NM_172057.2:c.1286_1287delinsAT , LRG_288t3:c.1286_1287delinsAT	NP_742054.1:p.Leu429His
XM_011516185.1:c.2006_2007delinsAT	XP_011514487.1:p.Leu669His
XM_011516186.1:c.2306_2307delinsAT	XP_011514488.1:p.Leu769His
XM_011516185.2:c.2006_2007delinsAT	XP_011514487.1:p.Leu669His
XM_011516186.3:c.2306_2307delinsAT	XP_011514488.1:p.Leu769His
XM_017012195.1:c.2156_2157delinsAT	XP_016867684.1:p.Leu719His
XM_017012196.1:c.2129_2130delinsAT	XP_016867685.1:p.Leu710His
NM_000238.4:c.2306_2307delinsAT MANE Select	NP_000229.1:p.Leu769His
NM_001204798.2:c.1286_1287delinsAT	NP_001191727.1:p.Leu429His
NM_172057.3:c.1286_1287delinsAT	NP_742054.1:p.Leu429His