Canonical Allele Identifier: CA2580077685

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1711664
• ClinVar RCV Id: RCV002293180

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958107_150958111dup , CM000669.2:g.150958107_150958111dup	GRCh38
NC_000007.13:g.150655195_150655199dup , CM000669.1:g.150655195_150655199dup	GRCh37
NC_000007.12:g.150286128_150286132dup	NCBI36
NG_008916.1:g.24817_24821dup , LRG_288:g.24817_24821dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1698_1702dup
ENST00000262186.10:c.865_869dup MANE Select	ENSP00000262186.5:p.Met291ArgfsTer?
ENST00000262186.9:c.865_869dup	ENSP00000262186.5:p.Met291ArgfsTer?
ENST00000430723.4:c.517_521dup	ENSP00000387657.4:p.Met175ArgfsTer?
ENST00000532957.5:n.1088_1092dup
NM_000238.3:c.865_869dup , LRG_288t1:c.865_869dup	NP_000229.1:p.Met291ArgfsTer?
NM_172056.2:c.865_869dup , LRG_288t2:c.865_869dup	NP_742053.1:p.Met291ArgfsTer?
XM_011516185.1:c.565_569dup	XP_011514487.1:p.Met191ArgfsTer?
XM_011516186.1:c.865_869dup	XP_011514488.1:p.Met291ArgfsTer?
XM_011516185.2:c.565_569dup	XP_011514487.1:p.Met191ArgfsTer?
XM_011516186.3:c.865_869dup	XP_011514488.1:p.Met291ArgfsTer?
XM_017012195.1:c.715_719dup	XP_016867684.1:p.Met241ArgfsTer?
XM_017012196.1:c.688_692dup	XP_016867685.1:p.Met232ArgfsTer?
NM_000238.4:c.865_869dup MANE Select	NP_000229.1:p.Met291ArgfsTer?