Canonical Allele Identifier: CA369862816

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655372G>C (hg19) ; chr7:g.150958284G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958284G>C , CM000669.2:g.150958284G>C	GRCh38
NC_000007.13:g.150655372G>C , CM000669.1:g.150655372G>C	GRCh37
NC_000007.12:g.150286305G>C	NCBI36
NG_008916.1:g.24643C>G , LRG_288:g.24643C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1524C>G
ENST00000262186.10:c.691C>G MANE Select	ENSP00000262186.5:p.Arg231Gly
ENST00000262186.9:c.691C>G	ENSP00000262186.5:p.Arg231Gly
ENST00000430723.4:c.343C>G	ENSP00000387657.4:p.Arg115Gly
ENST00000532957.5:n.914C>G
NM_000238.3:c.691C>G , LRG_288t1:c.691C>G	NP_000229.1:p.Arg231Gly
NM_172056.2:c.691C>G , LRG_288t2:c.691C>G	NP_742053.1:p.Arg231Gly
XM_011516185.1:c.391C>G	XP_011514487.1:p.Arg131Gly
XM_011516186.1:c.691C>G	XP_011514488.1:p.Arg231Gly
XM_011516185.2:c.391C>G	XP_011514487.1:p.Arg131Gly
XM_011516186.3:c.691C>G	XP_011514488.1:p.Arg231Gly
XM_017012195.1:c.541C>G	XP_016867684.1:p.Arg181Gly
XM_017012196.1:c.514C>G	XP_016867685.1:p.Arg172Gly
NM_000238.4:c.691C>G MANE Select	NP_000229.1:p.Arg231Gly