Canonical Allele Identifier: CA369856088

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950228A>C , CM000669.2:g.150950228A>C	GRCh38
NC_000007.13:g.150647316A>C , CM000669.1:g.150647316A>C	GRCh37
NC_000007.12:g.150278249A>C	NCBI36
NG_008916.1:g.32699T>G , LRG_288:g.32699T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2338T>G MANE Select	NP_000229.1:p.Tyr780Asp
ENST00000262186.10:c.2338T>G MANE Select	ENSP00000262186.5:p.Tyr780Asp
NM_000238.3:c.2338T>G , LRG_288t1:c.2338T>G	NP_000229.1:p.Tyr780Asp
NM_001204798.1:c.1318T>G	NP_001191727.1:p.Tyr440Asp
NM_001204798.2:c.1318T>G	NP_001191727.1:p.Tyr440Asp
NM_172056.2:c.2338T>G , LRG_288t2:c.2338T>G	NP_742053.1:p.Tyr780Asp
NM_172057.2:c.1318T>G , LRG_288t3:c.1318T>G	NP_742054.1:p.Tyr440Asp
NM_172057.3:c.1318T>G	NP_742054.1:p.Tyr440Asp
ENST00000262186.9:c.2338T>G	ENSP00000262186.5:p.Tyr780Asp
ENST00000330883.8:c.1318T>G	ENSP00000328531.4:p.Tyr440Asp
ENST00000330883.9:c.1318T>G	ENSP00000328531.4:p.Tyr440Asp
ENST00000430723.4:c.1990T>G	ENSP00000387657.4:p.Tyr664Asp
ENST00000461280.1:n.1625T>G
ENST00000461280.2:n.1636T>G
ENST00000473610.5:n.1970T>G
ENST00000532957.5:n.2561T>G
ENST00000684241.1:n.3171T>G
XM_011516185.1:c.2038T>G	XP_011514487.1:p.Tyr680Asp
XM_011516185.2:c.2038T>G	XP_011514487.1:p.Tyr680Asp
XM_011516186.1:c.2338T>G	XP_011514488.1:p.Tyr780Asp
XM_011516186.3:c.2338T>G	XP_011514488.1:p.Tyr780Asp
XM_017012195.1:c.2188T>G	XP_016867684.1:p.Tyr730Asp
XM_017012196.1:c.2161T>G	XP_016867685.1:p.Tyr721Asp