Canonical Allele Identifier: CA2685608280

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958317-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958318del , CM000669.2:g.150958318del	GRCh38
NC_000007.13:g.150655406del , CM000669.1:g.150655406del	GRCh37
NC_000007.12:g.150286339del	NCBI36
NG_008916.1:g.24609del , LRG_288:g.24609del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1490del
ENST00000262186.10:c.657del MANE Select	ENSP00000262186.5:p.Asp219GlufsTer?
ENST00000262186.9:c.657del	ENSP00000262186.5:p.Asp219GlufsTer?
ENST00000430723.4:c.309del	ENSP00000387657.4:p.Asp103GlufsTer?
ENST00000532957.5:n.880del
NM_000238.3:c.657del , LRG_288t1:c.657del	NP_000229.1:p.Asp219GlufsTer?
NM_172056.2:c.657del , LRG_288t2:c.657del	NP_742053.1:p.Asp219GlufsTer?
XM_011516185.1:c.357del	XP_011514487.1:p.Asp119GlufsTer?
XM_011516186.1:c.657del	XP_011514488.1:p.Asp219GlufsTer?
XM_011516185.2:c.357del	XP_011514487.1:p.Asp119GlufsTer?
XM_011516186.3:c.657del	XP_011514488.1:p.Asp219GlufsTer?
XM_017012195.1:c.507del	XP_016867684.1:p.Asp169GlufsTer?
XM_017012196.1:c.480del	XP_016867685.1:p.Asp160GlufsTer?
NM_000238.4:c.657del MANE Select	NP_000229.1:p.Asp219GlufsTer?