Canonical Allele Identifier: CA2695208811

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947865dup , CM000669.2:g.150947865dup	GRCh38
NC_000007.13:g.150644953dup , CM000669.1:g.150644953dup	GRCh37
NC_000007.12:g.150275886dup	NCBI36
NG_008916.1:g.35062dup , LRG_288:g.35062dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3539dup
ENST00000262186.10:c.2706dup MANE Select	ENSP00000262186.5:p.Gly903ArgfsTer17
ENST00000330883.9:c.1686dup	ENSP00000328531.4:p.Gly563ArgfsTer17
ENST00000262186.9:c.2706dup	ENSP00000262186.5:p.Gly903ArgfsTer17
ENST00000330883.8:c.1686dup	ENSP00000328531.4:p.Gly563ArgfsTer17
NM_000238.3:c.2706dup , LRG_288t1:c.2706dup	NP_000229.1:p.Gly903ArgfsTer17
NM_172057.2:c.1686dup , LRG_288t3:c.1686dup	NP_742054.1:p.Gly563ArgfsTer17
XM_011516185.1:c.2406dup	XP_011514487.1:p.Gly803ArgfsTer17
XM_011516186.1:c.2693-174dup	XP_011514488.1:n.2693-174dup
XM_011516185.2:c.2406dup	XP_011514487.1:p.Gly803ArgfsTer17
XM_011516186.3:c.2693-174dup	XP_011514488.1:n.2693-174dup
XM_017012195.1:c.2556dup	XP_016867684.1:p.Gly853ArgfsTer17
XM_017012196.1:c.2529dup	XP_016867685.1:p.Gly844ArgfsTer17
NM_000238.4:c.2706dup MANE Select	NP_000229.1:p.Gly903ArgfsTer17
NM_172057.3:c.1686dup	NP_742054.1:p.Gly563ArgfsTer17