Canonical Allele Identifier: CA214409

Gene: LRIG2

Linked Data

• ClinVar Variation Id: 40206
• ClinVar RCV Id: RCV000033224
• dbSNP Id: rs587776945
• MyVariant Identifiers: chr1:g.113642890del (hg19) ; chr1:g.113100268del (hg38)
• PubMed: PMID:23313374

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113100268del , CM000663.2:g.113100268del	GRCh38
NC_000001.10:g.113642890del , CM000663.1:g.113642890del	GRCh37
NC_000001.9:g.113444413del	NCBI36
NG_042819.1:g.32099del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361127.6:c.1230del MANE Select	ENSP00000355396.4:p.Glu410AspfsTer6
ENST00000361127.5:c.1230del	ENSP00000355396.4:p.Glu410AspfsTer6
ENST00000466069.5:n.121del
ENST00000470000.1:n.58del
NM_001312686.1:c.921del	NP_001299615.1:p.Glu307AspfsTer6
NM_014813.2:c.1230del	NP_055628.1:p.Glu410AspfsTer6
XM_005271369.1:c.1230del	XP_005271426.1:p.Glu410AspfsTer6
XM_011542497.1:c.147del	XP_011540799.1:p.Glu49AspfsTer6
XM_005271369.2:c.1230del	XP_005271426.1:p.Glu410AspfsTer6
XM_017002952.2:c.-434del	XP_016858441.1:n.-434del
XM_024451227.1:c.921del	XP_024306995.1:p.Glu307AspfsTer6
NM_014813.3:c.1230del MANE Select	NP_055628.1:p.Glu410AspfsTer6
NM_001312686.2:c.921del	NP_001299615.1:p.Glu307AspfsTer6