Canonical Allele Identifier: CA369856607

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647465A>C (hg19) ; chr7:g.150950377A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950377A>C , CM000669.2:g.150950377A>C	GRCh38
NC_000007.13:g.150647465A>C , CM000669.1:g.150647465A>C	GRCh37
NC_000007.12:g.150278398A>C	NCBI36
NG_008916.1:g.32550T>G , LRG_288:g.32550T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1487T>G
ENST00000684241.1:n.3022T>G
ENST00000262186.10:c.2189T>G MANE Select	ENSP00000262186.5:p.Leu730Arg
ENST00000330883.9:c.1169T>G	ENSP00000328531.4:p.Leu390Arg
ENST00000262186.9:c.2189T>G	ENSP00000262186.5:p.Leu730Arg
ENST00000330883.8:c.1169T>G	ENSP00000328531.4:p.Leu390Arg
ENST00000430723.4:c.1841T>G	ENSP00000387657.4:p.Leu614Arg
ENST00000461280.1:n.1476T>G
ENST00000473610.5:n.1821T>G
ENST00000532957.5:n.2412T>G
NM_000238.3:c.2189T>G , LRG_288t1:c.2189T>G	NP_000229.1:p.Leu730Arg
NM_001204798.1:c.1169T>G	NP_001191727.1:p.Leu390Arg
NM_172056.2:c.2189T>G , LRG_288t2:c.2189T>G	NP_742053.1:p.Leu730Arg
NM_172057.2:c.1169T>G , LRG_288t3:c.1169T>G	NP_742054.1:p.Leu390Arg
XM_011516185.1:c.1889T>G	XP_011514487.1:p.Leu630Arg
XM_011516186.1:c.2189T>G	XP_011514488.1:p.Leu730Arg
XM_011516185.2:c.1889T>G	XP_011514487.1:p.Leu630Arg
XM_011516186.3:c.2189T>G	XP_011514488.1:p.Leu730Arg
XM_017012195.1:c.2039T>G	XP_016867684.1:p.Leu680Arg
XM_017012196.1:c.2012T>G	XP_016867685.1:p.Leu671Arg
NM_000238.4:c.2189T>G MANE Select	NP_000229.1:p.Leu730Arg
NM_001204798.2:c.1169T>G	NP_001191727.1:p.Leu390Arg
NM_172057.3:c.1169T>G	NP_742054.1:p.Leu390Arg