Canonical Allele Identifier: CA369856422

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647400G>C (hg19) ; chr7:g.150950312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950312G>C , CM000669.2:g.150950312G>C	GRCh38
NC_000007.13:g.150647400G>C , CM000669.1:g.150647400G>C	GRCh37
NC_000007.12:g.150278333G>C	NCBI36
NG_008916.1:g.32615C>G , LRG_288:g.32615C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1552C>G
ENST00000684241.1:n.3087C>G
ENST00000262186.10:c.2254C>G MANE Select	ENSP00000262186.5:p.Arg752Gly
ENST00000330883.9:c.1234C>G	ENSP00000328531.4:p.Arg412Gly
ENST00000262186.9:c.2254C>G	ENSP00000262186.5:p.Arg752Gly
ENST00000330883.8:c.1234C>G	ENSP00000328531.4:p.Arg412Gly
ENST00000430723.4:c.1906C>G	ENSP00000387657.4:p.Arg636Gly
ENST00000461280.1:n.1541C>G
ENST00000473610.5:n.1886C>G
ENST00000532957.5:n.2477C>G
NM_000238.3:c.2254C>G , LRG_288t1:c.2254C>G	NP_000229.1:p.Arg752Gly
NM_001204798.1:c.1234C>G	NP_001191727.1:p.Arg412Gly
NM_172056.2:c.2254C>G , LRG_288t2:c.2254C>G	NP_742053.1:p.Arg752Gly
NM_172057.2:c.1234C>G , LRG_288t3:c.1234C>G	NP_742054.1:p.Arg412Gly
XM_011516185.1:c.1954C>G	XP_011514487.1:p.Arg652Gly
XM_011516186.1:c.2254C>G	XP_011514488.1:p.Arg752Gly
XM_011516185.2:c.1954C>G	XP_011514487.1:p.Arg652Gly
XM_011516186.3:c.2254C>G	XP_011514488.1:p.Arg752Gly
XM_017012195.1:c.2104C>G	XP_016867684.1:p.Arg702Gly
XM_017012196.1:c.2077C>G	XP_016867685.1:p.Arg693Gly
NM_000238.4:c.2254C>G MANE Select	NP_000229.1:p.Arg752Gly
NM_001204798.2:c.1234C>G	NP_001191727.1:p.Arg412Gly
NM_172057.3:c.1234C>G	NP_742054.1:p.Arg412Gly