Canonical Allele Identifier: CA2695208649

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974737del , CM000669.2:g.150974737del	GRCh38
NC_000007.13:g.150671825del , CM000669.1:g.150671825del	GRCh37
NC_000007.12:g.150302758del	NCBI36
NG_008916.1:g.8190del , LRG_288:g.8190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.281del MANE Select	ENSP00000262186.5:p.Val94GlyfsTer22
ENST00000262186.9:c.281del	ENSP00000262186.5:p.Val94GlyfsTer22
ENST00000430723.4:c.104del	ENSP00000387657.4:p.Val35GlyfsTer22
ENST00000532957.5:n.504del
NM_000238.3:c.281del , LRG_288t1:c.281del	NP_000229.1:p.Val94GlyfsTer22
NM_172056.2:c.281del , LRG_288t2:c.281del	NP_742053.1:p.Val94GlyfsTer22
XM_011516186.1:c.281del	XP_011514488.1:p.Val94GlyfsTer22
XM_011516186.3:c.281del	XP_011514488.1:p.Val94GlyfsTer22
XM_017012196.1:c.104del	XP_016867685.1:p.Val35GlyfsTer22
NM_000238.4:c.281del MANE Select	NP_000229.1:p.Val94GlyfsTer22