Canonical Allele Identifier: CA2580070034

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 2116168
• ClinVar RCV Id: RCV003024583

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125007del , CM000665.2:g.49125007del	GRCh38
NC_000003.11:g.49162440del , CM000665.1:g.49162440del	GRCh37
NC_000003.10:g.49137444del	NCBI36
NG_008094.1:g.13162del
NG_054716.1:g.934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2884+1del
ENST00000305544.8:c.2884+1del
ENST00000418109.5:c.2884+1del
ENST00000462930.5:n.291+1del
ENST00000464891.5:n.617+1del
ENST00000483057.1:n.484+1del
ENST00000486298.5:n.590del
ENST00000542580.1:n.199+1del
NM_002292.3:c.2884+1del
XM_005265127.3:c.2884+1del
XM_005265127.4:c.2884+1del
NM_002292.4:c.2884+1del