Canonical Allele Identifier: CA369860215

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649863A>C (hg19) ; chr7:g.150952775A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952775A>C , CM000669.2:g.150952775A>C	GRCh38
NC_000007.13:g.150649863A>C , CM000669.1:g.150649863A>C	GRCh37
NC_000007.12:g.150280796A>C	NCBI36
NG_008916.1:g.30152T>G , LRG_288:g.30152T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.505T>G
ENST00000684116.1:n.100T>G
ENST00000684241.1:n.2040T>G
ENST00000262186.10:c.1207T>G MANE Select	ENSP00000262186.5:p.Tyr403Asp
ENST00000330883.9:c.187T>G	ENSP00000328531.4:p.Tyr63Asp
ENST00000262186.9:c.1207T>G	ENSP00000262186.5:p.Tyr403Asp
ENST00000330883.8:c.187T>G	ENSP00000328531.4:p.Tyr63Asp
ENST00000430723.4:c.859T>G	ENSP00000387657.4:p.Tyr287Asp
ENST00000461280.1:n.494T>G
ENST00000473610.5:n.512T>G
ENST00000532957.5:n.1430T>G
NM_000238.3:c.1207T>G , LRG_288t1:c.1207T>G	NP_000229.1:p.Tyr403Asp
NM_001204798.1:c.187T>G	NP_001191727.1:p.Tyr63Asp
NM_172056.2:c.1207T>G , LRG_288t2:c.1207T>G	NP_742053.1:p.Tyr403Asp
NM_172057.2:c.187T>G , LRG_288t3:c.187T>G	NP_742054.1:p.Tyr63Asp
XM_011516185.1:c.907T>G	XP_011514487.1:p.Tyr303Asp
XM_011516186.1:c.1207T>G	XP_011514488.1:p.Tyr403Asp
XM_011516185.2:c.907T>G	XP_011514487.1:p.Tyr303Asp
XM_011516186.3:c.1207T>G	XP_011514488.1:p.Tyr403Asp
XM_017012195.1:c.1057T>G	XP_016867684.1:p.Tyr353Asp
XM_017012196.1:c.1030T>G	XP_016867685.1:p.Tyr344Asp
NM_000238.4:c.1207T>G MANE Select	NP_000229.1:p.Tyr403Asp
NM_001204798.2:c.187T>G	NP_001191727.1:p.Tyr63Asp
NM_172057.3:c.187T>G	NP_742054.1:p.Tyr63Asp