Canonical Allele Identifier: CA169081213

Gene: KCNH2

Linked Data

• dbSNP Id: rs587782953
• MyVariant Identifiers: chr7:g.150655219_150655220insG (hg19) ; chr7:g.150958131_150958132insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958132dup , CM000669.2:g.150958132dup	GRCh38
NC_000007.13:g.150655220dup , CM000669.1:g.150655220dup	GRCh37
NC_000007.12:g.150286153dup	NCBI36
NG_008916.1:g.24795dup , LRG_288:g.24795dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1676dup
ENST00000262186.10:c.843dup MANE Select	ENSP00000262186.5:p.Ala282ArgfsTer?
ENST00000262186.9:c.843dup	ENSP00000262186.5:p.Ala282ArgfsTer?
ENST00000430723.4:c.495dup	ENSP00000387657.4:p.Ala166ArgfsTer?
ENST00000532957.5:n.1066dup
NM_000238.3:c.843dup , LRG_288t1:c.843dup	NP_000229.1:p.Ala282ArgfsTer?
NM_172056.2:c.843dup , LRG_288t2:c.843dup	NP_742053.1:p.Ala282ArgfsTer?
XM_011516185.1:c.543dup	XP_011514487.1:p.Ala182ArgfsTer?
XM_011516186.1:c.843dup	XP_011514488.1:p.Ala282ArgfsTer?
XM_011516185.2:c.543dup	XP_011514487.1:p.Ala182ArgfsTer?
XM_011516186.3:c.843dup	XP_011514488.1:p.Ala282ArgfsTer?
XM_017012195.1:c.693dup	XP_016867684.1:p.Ala232ArgfsTer?
XM_017012196.1:c.666dup	XP_016867685.1:p.Ala223ArgfsTer?
NM_000238.4:c.843dup MANE Select	NP_000229.1:p.Ala282ArgfsTer?