Canonical Allele Identifier: CA2685608021

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958263-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958266del , CM000669.2:g.150958266del	GRCh38
NC_000007.13:g.150655354del , CM000669.1:g.150655354del	GRCh37
NC_000007.12:g.150286287del	NCBI36
NG_008916.1:g.24663del , LRG_288:g.24663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1544del
ENST00000262186.10:c.711del MANE Select	ENSP00000262186.5:p.Gly238AlafsTer?
ENST00000262186.9:c.711del	ENSP00000262186.5:p.Gly238AlafsTer?
ENST00000430723.4:c.363del	ENSP00000387657.4:p.Gly122AlafsTer?
ENST00000532957.5:n.934del
NM_000238.3:c.711del , LRG_288t1:c.711del	NP_000229.1:p.Gly238AlafsTer?
NM_172056.2:c.711del , LRG_288t2:c.711del	NP_742053.1:p.Gly238AlafsTer?
XM_011516185.1:c.411del	XP_011514487.1:p.Gly138AlafsTer?
XM_011516186.1:c.711del	XP_011514488.1:p.Gly238AlafsTer?
XM_011516185.2:c.411del	XP_011514487.1:p.Gly138AlafsTer?
XM_011516186.3:c.711del	XP_011514488.1:p.Gly238AlafsTer?
XM_017012195.1:c.561del	XP_016867684.1:p.Gly188AlafsTer?
XM_017012196.1:c.534del	XP_016867685.1:p.Gly179AlafsTer?
NM_000238.4:c.711del MANE Select	NP_000229.1:p.Gly238AlafsTer?