Canonical Allele Identifier: CA369858942

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648832A>T (hg19) ; chr7:g.150951744A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951744A>T , CM000669.2:g.150951744A>T	GRCh38
NC_000007.13:g.150648832A>T , CM000669.1:g.150648832A>T	GRCh37
NC_000007.12:g.150279765A>T	NCBI36
NG_008916.1:g.31183T>A , LRG_288:g.31183T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.947T>A
ENST00000684116.1:n.542T>A
ENST00000684241.1:n.2482T>A
ENST00000262186.10:c.1649T>A MANE Select	ENSP00000262186.5:p.Leu550Gln
ENST00000330883.9:c.629T>A	ENSP00000328531.4:p.Leu210Gln
ENST00000262186.9:c.1649T>A	ENSP00000262186.5:p.Leu550Gln
ENST00000330883.8:c.629T>A	ENSP00000328531.4:p.Leu210Gln
ENST00000430723.4:c.1301T>A	ENSP00000387657.4:p.Leu434Gln
ENST00000461280.1:n.936T>A
ENST00000473610.5:n.954T>A
ENST00000532957.5:n.1872T>A
NM_000238.3:c.1649T>A , LRG_288t1:c.1649T>A	NP_000229.1:p.Leu550Gln
NM_001204798.1:c.629T>A	NP_001191727.1:p.Leu210Gln
NM_172056.2:c.1649T>A , LRG_288t2:c.1649T>A	NP_742053.1:p.Leu550Gln
NM_172057.2:c.629T>A , LRG_288t3:c.629T>A	NP_742054.1:p.Leu210Gln
XM_011516185.1:c.1349T>A	XP_011514487.1:p.Leu450Gln
XM_011516186.1:c.1649T>A	XP_011514488.1:p.Leu550Gln
XM_011516185.2:c.1349T>A	XP_011514487.1:p.Leu450Gln
XM_011516186.3:c.1649T>A	XP_011514488.1:p.Leu550Gln
XM_017012195.1:c.1499T>A	XP_016867684.1:p.Leu500Gln
XM_017012196.1:c.1472T>A	XP_016867685.1:p.Leu491Gln
NM_000238.4:c.1649T>A MANE Select	NP_000229.1:p.Leu550Gln
NM_001204798.2:c.629T>A	NP_001191727.1:p.Leu210Gln
NM_172057.3:c.629T>A	NP_742054.1:p.Leu210Gln