Canonical Allele Identifier: CA74480466

Gene: LAMB2

Linked Data

• dbSNP Id: rs35590221
• MyVariant Identifiers: chr3:g.49162528del (hg19) ; chr3:g.49125095del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125096del , CM000665.2:g.49125096del	GRCh38
NC_000003.11:g.49162529del , CM000665.1:g.49162529del	GRCh37
NC_000003.10:g.49137533del	NCBI36
NG_008094.1:g.13072del
NG_054716.1:g.844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2795del MANE Select	ENSP00000307156.4:p.Gly932AlafsTer?
ENST00000305544.8:c.2795del	ENSP00000307156.4:p.Gly932AlafsTer?
ENST00000418109.5:c.2795del	ENSP00000388325.1:p.Gly932AlafsTer?
ENST00000462930.5:n.202del
ENST00000464891.5:n.528del
ENST00000483057.1:n.395del
ENST00000486298.5:n.500del
ENST00000542580.1:n.110del
NM_002292.3:c.2795del	NP_002283.3:p.Gly932AlafsTer?
XM_005265127.3:c.2795del	XP_005265184.1:p.Gly932AlafsTer?
XM_005265127.4:c.2795del	XP_005265184.1:p.Gly932AlafsTer?
NM_002292.4:c.2795del MANE Select	NP_002283.3:p.Gly932AlafsTer?