Canonical Allele Identifier: CA369859837

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952585T>G , CM000669.2:g.150952585T>G	GRCh38
NC_000007.13:g.150649673T>G , CM000669.1:g.150649673T>G	GRCh37
NC_000007.12:g.150280606T>G	NCBI36
NG_008916.1:g.30342A>C , LRG_288:g.30342A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1397A>C MANE Select	NP_000229.1:p.Asp466Ala
ENST00000262186.10:c.1397A>C MANE Select	ENSP00000262186.5:p.Asp466Ala
NM_000238.3:c.1397A>C , LRG_288t1:c.1397A>C	NP_000229.1:p.Asp466Ala
NM_001204798.1:c.377A>C	NP_001191727.1:p.Asp126Ala
NM_001204798.2:c.377A>C	NP_001191727.1:p.Asp126Ala
NM_172056.2:c.1397A>C , LRG_288t2:c.1397A>C	NP_742053.1:p.Asp466Ala
NM_172057.2:c.377A>C , LRG_288t3:c.377A>C	NP_742054.1:p.Asp126Ala
NM_172057.3:c.377A>C	NP_742054.1:p.Asp126Ala
ENST00000262186.9:c.1397A>C	ENSP00000262186.5:p.Asp466Ala
ENST00000330883.8:c.377A>C	ENSP00000328531.4:p.Asp126Ala
ENST00000330883.9:c.377A>C	ENSP00000328531.4:p.Asp126Ala
ENST00000430723.4:c.1049A>C	ENSP00000387657.4:p.Asp350Ala
ENST00000461280.1:n.684A>C
ENST00000461280.2:n.695A>C
ENST00000473610.5:n.702A>C
ENST00000532957.5:n.1620A>C
ENST00000684116.1:n.290A>C
ENST00000684241.1:n.2230A>C
XM_011516185.1:c.1097A>C	XP_011514487.1:p.Asp366Ala
XM_011516185.2:c.1097A>C	XP_011514487.1:p.Asp366Ala
XM_011516186.1:c.1397A>C	XP_011514488.1:p.Asp466Ala
XM_011516186.3:c.1397A>C	XP_011514488.1:p.Asp466Ala
XM_017012195.1:c.1247A>C	XP_016867684.1:p.Asp416Ala
XM_017012196.1:c.1220A>C	XP_016867685.1:p.Asp407Ala