Canonical Allele Identifier: CA1363339534

Gene: LAMB2

Linked Data

• dbSNP Id: rs762162568
• gnomAD v4: 3-49125233-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125233C>G , CM000665.2:g.49125233C>G	GRCh38
NC_000003.11:g.49162666C>G , CM000665.1:g.49162666C>G	GRCh37
NC_000003.10:g.49137670C>G	NCBI36
NG_008094.1:g.12934G>C
NG_054716.1:g.706G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2720+20G>C MANE Select	ENSP00000307156.4:n.2720+20G>C
ENST00000305544.8:c.2720+20G>C	ENSP00000307156.4:n.2720+20G>C
ENST00000418109.5:c.2720+20G>C	ENSP00000388325.1:n.2720+20G>C
ENST00000462930.5:n.127+20G>C
ENST00000464891.5:n.453+36G>C
ENST00000483057.1:n.320+20G>C
ENST00000486298.5:n.426-64G>C
NM_002292.3:c.2720+20G>C	NP_002283.3:n.2720+20G>C
XM_005265127.3:c.2720+20G>C	XP_005265184.1:n.2720+20G>C
XM_005265127.4:c.2720+20G>C	XP_005265184.1:n.2720+20G>C
NM_002292.4:c.2720+20G>C MANE Select	NP_002283.3:n.2720+20G>C