Canonical Allele Identifier: CA2394201
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 345996
dbSNP Id: rs201235061
gnomAD v2: 3-49162513-C-T
gnomAD v3: 3-49125080-C-T
gnomAD v4: 3-49125080-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125080C>T , CM000665.2:g.49125080C>T GRCh38
NC_000003.11:g.49162513C>T , CM000665.1:g.49162513C>T GRCh37
NC_000003.10:g.49137517C>T NCBI36
NG_008094.1:g.13087G>A
NG_054716.1:g.859G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2810G>A MANE Select ENSP00000307156.4:p.Arg937Gln
ENST00000305544.8:c.2810G>A ENSP00000307156.4:p.Arg937Gln
ENST00000418109.5:c.2810G>A ENSP00000388325.1:p.Arg937Gln
ENST00000462930.5:n.217G>A
ENST00000464891.5:n.543G>A
ENST00000483057.1:n.410G>A
ENST00000486298.5:n.515G>A
ENST00000542580.1:n.125G>A
NM_002292.3:c.2810G>A NP_002283.3:p.Arg937Gln
XM_005265127.3:c.2810G>A XP_005265184.1:p.Arg937Gln
XM_005265127.4:c.2810G>A XP_005265184.1:p.Arg937Gln
NM_002292.4:c.2810G>A MANE Select NP_002283.3:p.Arg937Gln