Canonical Allele Identifier: CA369860052

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649778A>T (hg19) ; chr7:g.150952690A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952690A>T , CM000669.2:g.150952690A>T	GRCh38
NC_000007.13:g.150649778A>T , CM000669.1:g.150649778A>T	GRCh37
NC_000007.12:g.150280711A>T	NCBI36
NG_008916.1:g.30237T>A , LRG_288:g.30237T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.590T>A
ENST00000684116.1:n.185T>A
ENST00000684241.1:n.2125T>A
ENST00000262186.10:c.1292T>A MANE Select	ENSP00000262186.5:p.Phe431Tyr
ENST00000330883.9:c.272T>A	ENSP00000328531.4:p.Phe91Tyr
ENST00000262186.9:c.1292T>A	ENSP00000262186.5:p.Phe431Tyr
ENST00000330883.8:c.272T>A	ENSP00000328531.4:p.Phe91Tyr
ENST00000430723.4:c.944T>A	ENSP00000387657.4:p.Phe315Tyr
ENST00000461280.1:n.579T>A
ENST00000473610.5:n.597T>A
ENST00000532957.5:n.1515T>A
NM_000238.3:c.1292T>A , LRG_288t1:c.1292T>A	NP_000229.1:p.Phe431Tyr
NM_001204798.1:c.272T>A	NP_001191727.1:p.Phe91Tyr
NM_172056.2:c.1292T>A , LRG_288t2:c.1292T>A	NP_742053.1:p.Phe431Tyr
NM_172057.2:c.272T>A , LRG_288t3:c.272T>A	NP_742054.1:p.Phe91Tyr
XM_011516185.1:c.992T>A	XP_011514487.1:p.Phe331Tyr
XM_011516186.1:c.1292T>A	XP_011514488.1:p.Phe431Tyr
XM_011516185.2:c.992T>A	XP_011514487.1:p.Phe331Tyr
XM_011516186.3:c.1292T>A	XP_011514488.1:p.Phe431Tyr
XM_017012195.1:c.1142T>A	XP_016867684.1:p.Phe381Tyr
XM_017012196.1:c.1115T>A	XP_016867685.1:p.Phe372Tyr
NM_000238.4:c.1292T>A MANE Select	NP_000229.1:p.Phe431Tyr
NM_001204798.2:c.272T>A	NP_001191727.1:p.Phe91Tyr
NM_172057.3:c.272T>A	NP_742054.1:p.Phe91Tyr