Canonical Allele Identifier: CA2580077744

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2002742
• ClinVar RCV Id: RCV002824819

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947723_150947735del , CM000669.2:g.150947723_150947735del	GRCh38
NC_000007.13:g.150644811_150644823del , CM000669.1:g.150644811_150644823del	GRCh37
NC_000007.12:g.150275744_150275756del	NCBI36
NG_008916.1:g.35196_35208del , LRG_288:g.35196_35208del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3673_3685del
ENST00000262186.10:c.2840_2852del MANE Select	ENSP00000262186.5:p.Gly947AlafsTer23
ENST00000330883.9:c.1820_1832del	ENSP00000328531.4:p.Gly607AlafsTer23
ENST00000262186.9:c.2840_2852del	ENSP00000262186.5:p.Gly947AlafsTer23
ENST00000330883.8:c.1820_1832del	ENSP00000328531.4:p.Gly607AlafsTer23
NM_000238.3:c.2840_2852del , LRG_288t1:c.2840_2852del	NP_000229.1:p.Gly947AlafsTer23
NM_172057.2:c.1820_1832del , LRG_288t3:c.1820_1832del	NP_742054.1:p.Gly607AlafsTer23
XM_011516185.1:c.2540_2552del	XP_011514487.1:p.Gly847AlafsTer23
XM_011516186.1:c.2693-40_2693-28del	XP_011514488.1:n.2693-40_2693-28del
XM_011516185.2:c.2540_2552del	XP_011514487.1:p.Gly847AlafsTer23
XM_011516186.3:c.2693-40_2693-28del	XP_011514488.1:n.2693-40_2693-28del
XM_017012195.1:c.2690_2702del	XP_016867684.1:p.Gly897AlafsTer23
XM_017012196.1:c.2663_2675del	XP_016867685.1:p.Gly888AlafsTer23
NM_000238.4:c.2840_2852del MANE Select	NP_000229.1:p.Gly947AlafsTer23
NM_172057.3:c.1820_1832del	NP_742054.1:p.Gly607AlafsTer23