Canonical Allele Identifier: CA2394277
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1055301
ClinVar RCV Id: RCV001363946
dbSNP Id: rs774703538
ExAC: 3:49162848 C / T
gnomAD v2: 3-49162848-C-T
gnomAD v4: 3-49125415-C-T
COSMIC: COSM1213037
MyVariant Identifiers: chr3:g.49162848C>T (hg19) chr3:g.49125415C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125415C>T , CM000665.2:g.49125415C>T GRCh38
NC_000003.11:g.49162848C>T , CM000665.1:g.49162848C>T GRCh37
NC_000003.10:g.49137852C>T NCBI36
NG_008094.1:g.12752G>A
NG_054716.1:g.524G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2558G>A MANE Select ENSP00000307156.4:p.Arg853Gln
ENST00000305544.8:c.2558G>A ENSP00000307156.4:p.Arg853Gln
ENST00000418109.5:c.2558G>A ENSP00000388325.1:p.Arg853Gln
ENST00000464891.5:n.307G>A
ENST00000477701.1:n.431G>A
ENST00000483057.1:n.158G>A
ENST00000486298.5:n.426-246G>A
NM_002292.3:c.2558G>A NP_002283.3:p.Arg853Gln
XM_005265127.3:c.2558G>A XP_005265184.1:p.Arg853Gln
XM_005265127.4:c.2558G>A XP_005265184.1:p.Arg853Gln
NM_002292.4:c.2558G>A MANE Select NP_002283.3:p.Arg853Gln
Search 100 bp 5'
Search 100 bp 3'