Canonical Allele Identifier: CA352720102

Gene: LAMB2

Linked Data

• dbSNP Id: rs774703538
• gnomAD v2: 3-49162848-C-G
• gnomAD v3: 3-49125415-C-G
• gnomAD v4: 3-49125415-C-G
• MyVariant Identifiers: chr3:g.49162848C>G (hg19) ; chr3:g.49125415C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2558G>C MANE Select	ENSP00000307156.4:p.Arg853Pro
ENST00000305544.8:c.2558G>C	ENSP00000307156.4:p.Arg853Pro
ENST00000418109.5:c.2558G>C	ENSP00000388325.1:p.Arg853Pro
ENST00000464891.5:n.307G>C
ENST00000477701.1:n.431G>C
ENST00000483057.1:n.158G>C
ENST00000486298.5:n.426-246G>C
NM_002292.3:c.2558G>C	NP_002283.3:p.Arg853Pro
XM_005265127.3:c.2558G>C	XP_005265184.1:p.Arg853Pro
XM_005265127.4:c.2558G>C	XP_005265184.1:p.Arg853Pro
NM_002292.4:c.2558G>C MANE Select	NP_002283.3:p.Arg853Pro