Canonical Allele Identifier: CA915945558

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 692260
• ClinVar RCV Id: RCV000853608
• dbSNP Id: rs1584883087

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974771_150974789del , CM000669.2:g.150974771_150974789del	GRCh38
NC_000007.13:g.150671859_150671877del , CM000669.1:g.150671859_150671877del	GRCh37
NC_000007.12:g.150302792_150302810del	NCBI36
NG_008916.1:g.8141_8159del , LRG_288:g.8141_8159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.232_250del MANE Select	ENSP00000262186.5:p.Ala78ArgfsTer?
ENST00000262186.9:c.232_250del	ENSP00000262186.5:p.Ala78ArgfsTer?
ENST00000430723.4:c.55_73del	ENSP00000387657.4:p.Ala19ArgfsTer?
ENST00000532957.5:n.455_473del
NM_000238.3:c.232_250del , LRG_288t1:c.232_250del	NP_000229.1:p.Ala78ArgfsTer?
NM_172056.2:c.232_250del , LRG_288t2:c.232_250del	NP_742053.1:p.Ala78ArgfsTer?
XM_011516186.1:c.232_250del	XP_011514488.1:p.Ala78ArgfsTer?
XM_011516186.3:c.232_250del	XP_011514488.1:p.Ala78ArgfsTer?
XM_017012196.1:c.55_73del	XP_016867685.1:p.Ala19ArgfsTer?
NM_000238.4:c.232_250del MANE Select	NP_000229.1:p.Ala78ArgfsTer?