Canonical Allele Identifier: CA2580077703

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2023450
• ClinVar RCV Id: RCV002857957

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958418_150958430del , CM000669.2:g.150958418_150958430del	GRCh38
NC_000007.13:g.150655506_150655518del , CM000669.1:g.150655506_150655518del	GRCh37
NC_000007.12:g.150286439_150286451del	NCBI36
NG_008916.1:g.24500_24512del , LRG_288:g.24500_24512del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1381_1393del
ENST00000262186.10:c.548_560del MANE Select	ENSP00000262186.5:p.Gly183AlafsTer14
ENST00000262186.9:c.548_560del	ENSP00000262186.5:p.Gly183AlafsTer14
ENST00000430723.4:c.235-35_235-23del	ENSP00000387657.4:n.235-35_235-23del
ENST00000532957.5:n.771_783del
NM_000238.3:c.548_560del , LRG_288t1:c.548_560del	NP_000229.1:p.Gly183AlafsTer14
NM_172056.2:c.548_560del , LRG_288t2:c.548_560del	NP_742053.1:p.Gly183AlafsTer14
XM_011516185.1:c.248_260del	XP_011514487.1:p.Gly83AlafsTer14
XM_011516186.1:c.548_560del	XP_011514488.1:p.Gly183AlafsTer14
XM_011516185.2:c.248_260del	XP_011514487.1:p.Gly83AlafsTer14
XM_011516186.3:c.548_560del	XP_011514488.1:p.Gly183AlafsTer14
XM_017012195.1:c.398_410del	XP_016867684.1:p.Gly133AlafsTer14
XM_017012196.1:c.371_383del	XP_016867685.1:p.Gly124AlafsTer14
NM_000238.4:c.548_560del MANE Select	NP_000229.1:p.Gly183AlafsTer14