Canonical Allele Identifier: CA2394217
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 258605
dbSNP Id: rs35713889
gnomAD v2: 3-49162583-C-T
gnomAD v3: 3-49125150-C-T
gnomAD v4: 3-49125150-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125150C>T , CM000665.2:g.49125150C>T GRCh38
NC_000003.11:g.49162583C>T , CM000665.1:g.49162583C>T GRCh37
NC_000003.10:g.49137587C>T NCBI36
NG_008094.1:g.13017G>A
NG_054716.1:g.789G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.2740G>A MANE Select ENSP00000307156.4:p.Gly914Arg
ENST00000305544.8:c.2740G>A ENSP00000307156.4:p.Gly914Arg
ENST00000418109.5:c.2740G>A ENSP00000388325.1:p.Gly914Arg
ENST00000462930.5:n.147G>A
ENST00000464891.5:n.473G>A
ENST00000483057.1:n.340G>A
ENST00000486298.5:n.445G>A
ENST00000542580.1:n.55G>A
NM_002292.3:c.2740G>A NP_002283.3:p.Gly914Arg
XM_005265127.3:c.2740G>A XP_005265184.1:p.Gly914Arg
XM_005265127.4:c.2740G>A XP_005265184.1:p.Gly914Arg
NM_002292.4:c.2740G>A MANE Select NP_002283.3:p.Gly914Arg