Canonical Allele Identifier: CA2685608949

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958426-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958429del , CM000669.2:g.150958429del	GRCh38
NC_000007.13:g.150655517del , CM000669.1:g.150655517del	GRCh37
NC_000007.12:g.150286450del	NCBI36
NG_008916.1:g.24500del , LRG_288:g.24500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1381del
ENST00000262186.10:c.548del MANE Select	ENSP00000262186.5:p.Gly183AlafsTer18
ENST00000262186.9:c.548del	ENSP00000262186.5:p.Gly183AlafsTer18
ENST00000430723.4:c.235-35del	ENSP00000387657.4:n.235-35del
ENST00000532957.5:n.771del
NM_000238.3:c.548del , LRG_288t1:c.548del	NP_000229.1:p.Gly183AlafsTer18
NM_172056.2:c.548del , LRG_288t2:c.548del	NP_742053.1:p.Gly183AlafsTer18
XM_011516185.1:c.248del	XP_011514487.1:p.Gly83AlafsTer18
XM_011516186.1:c.548del	XP_011514488.1:p.Gly183AlafsTer18
XM_011516185.2:c.248del	XP_011514487.1:p.Gly83AlafsTer18
XM_011516186.3:c.548del	XP_011514488.1:p.Gly183AlafsTer18
XM_017012195.1:c.398del	XP_016867684.1:p.Gly133AlafsTer18
XM_017012196.1:c.371del	XP_016867685.1:p.Gly124AlafsTer18
NM_000238.4:c.548del MANE Select	NP_000229.1:p.Gly183AlafsTer18