Canonical Allele Identifier: CA2685607759

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958220-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958224del , CM000669.2:g.150958224del	GRCh38
NC_000007.13:g.150655312del , CM000669.1:g.150655312del	GRCh37
NC_000007.12:g.150286245del	NCBI36
NG_008916.1:g.24706del , LRG_288:g.24706del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1587del
ENST00000262186.10:c.754del MANE Select	ENSP00000262186.5:p.Arg252GlyfsTer?
ENST00000262186.9:c.754del	ENSP00000262186.5:p.Arg252GlyfsTer?
ENST00000430723.4:c.406del	ENSP00000387657.4:p.Arg136GlyfsTer?
ENST00000532957.5:n.977del
NM_000238.3:c.754del , LRG_288t1:c.754del	NP_000229.1:p.Arg252GlyfsTer?
NM_172056.2:c.754del , LRG_288t2:c.754del	NP_742053.1:p.Arg252GlyfsTer?
XM_011516185.1:c.454del	XP_011514487.1:p.Arg152GlyfsTer?
XM_011516186.1:c.754del	XP_011514488.1:p.Arg252GlyfsTer?
XM_011516185.2:c.454del	XP_011514487.1:p.Arg152GlyfsTer?
XM_011516186.3:c.754del	XP_011514488.1:p.Arg252GlyfsTer?
XM_017012195.1:c.604del	XP_016867684.1:p.Arg202GlyfsTer?
XM_017012196.1:c.577del	XP_016867685.1:p.Arg193GlyfsTer?
NM_000238.4:c.754del MANE Select	NP_000229.1:p.Arg252GlyfsTer?