Canonical Allele Identifier: CA2685600481

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948465-AGGACAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948466_150948472del , CM000669.2:g.150948466_150948472del	GRCh38
NC_000007.13:g.150645554_150645560del , CM000669.1:g.150645554_150645560del	GRCh37
NC_000007.12:g.150276487_150276493del	NCBI36
NG_008916.1:g.34455_34461del , LRG_288:g.34455_34461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3497_3503del
ENST00000262186.10:c.2664_2670del MANE Select	ENSP00000262186.5:p.Lys888AsnfsTer?
ENST00000330883.9:c.1644_1650del	ENSP00000328531.4:p.Lys548AsnfsTer?
ENST00000262186.9:c.2664_2670del	ENSP00000262186.5:p.Lys888AsnfsTer?
ENST00000330883.8:c.1644_1650del	ENSP00000328531.4:p.Lys548AsnfsTer?
NM_000238.3:c.2664_2670del , LRG_288t1:c.2664_2670del	NP_000229.1:p.Lys888AsnfsTer?
NM_172057.2:c.1644_1650del , LRG_288t3:c.1644_1650del	NP_742054.1:p.Lys548AsnfsTer?
XM_011516185.1:c.2364_2370del	XP_011514487.1:p.Lys788AsnfsTer?
XM_011516186.1:c.2664_2670del	XP_011514488.1:p.Lys888AsnfsTer?
XM_011516185.2:c.2364_2370del	XP_011514487.1:p.Lys788AsnfsTer?
XM_011516186.3:c.2664_2670del	XP_011514488.1:p.Lys888AsnfsTer?
XM_017012195.1:c.2514_2520del	XP_016867684.1:p.Lys838AsnfsTer?
XM_017012196.1:c.2487_2493del	XP_016867685.1:p.Lys829AsnfsTer?
NM_000238.4:c.2664_2670del MANE Select	NP_000229.1:p.Lys888AsnfsTer?
NM_172057.3:c.1644_1650del	NP_742054.1:p.Lys548AsnfsTer?