Canonical Allele Identifier: CA040150

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958337T>C , CM000669.2:g.150958337T>C	GRCh38
NC_000007.13:g.150655425T>C , CM000669.1:g.150655425T>C	GRCh37
NC_000007.12:g.150286358T>C	NCBI36
NG_008916.1:g.24590A>G , LRG_288:g.24590A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.638A>G MANE Select	NP_000229.1:p.Asp213Gly
ENST00000262186.10:c.638A>G MANE Select	ENSP00000262186.5:p.Asp213Gly
NM_000238.3:c.638A>G , LRG_288t1:c.638A>G	NP_000229.1:p.Asp213Gly
NM_172056.2:c.638A>G , LRG_288t2:c.638A>G	NP_742053.1:p.Asp213Gly
ENST00000262186.9:c.638A>G	ENSP00000262186.5:p.Asp213Gly
ENST00000430723.4:c.290A>G	ENSP00000387657.4:p.Asp97Gly
ENST00000532957.5:n.861A>G
ENST00000684241.1:n.1471A>G
XM_011516185.1:c.338A>G	XP_011514487.1:p.Asp113Gly
XM_011516185.2:c.338A>G	XP_011514487.1:p.Asp113Gly
XM_011516186.1:c.638A>G	XP_011514488.1:p.Asp213Gly
XM_011516186.3:c.638A>G	XP_011514488.1:p.Asp213Gly
XM_017012195.1:c.488A>G	XP_016867684.1:p.Asp163Gly
XM_017012196.1:c.461A>G	XP_016867685.1:p.Asp154Gly