Canonical Allele Identifier: CA352692657

Gene: LAMB2

Linked Data

• dbSNP Id: rs2045358294
• gnomAD v3: 3-49122815-G-C
• gnomAD v4: 3-49122815-G-C
• MyVariant Identifiers: chr3:g.49160248G>C (hg19) ; chr3:g.49122815G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122815G>C , CM000665.2:g.49122815G>C	GRCh38
NC_000003.11:g.49160248G>C , CM000665.1:g.49160248G>C	GRCh37
NC_000003.10:g.49135252G>C	NCBI36
NG_008094.1:g.15352C>G
NG_054716.1:g.3124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4462C>G MANE Select	ENSP00000307156.4:p.Gln1488Glu
ENST00000305544.8:c.4462C>G	ENSP00000307156.4:p.Gln1488Glu
ENST00000418109.5:c.4462C>G	ENSP00000388325.1:p.Gln1488Glu
ENST00000469665.1:n.771C>G
NM_002292.3:c.4462C>G	NP_002283.3:p.Gln1488Glu
XM_005265127.3:c.4462C>G	XP_005265184.1:p.Gln1488Glu
XM_005265127.4:c.4462C>G	XP_005265184.1:p.Gln1488Glu
NM_002292.4:c.4462C>G MANE Select	NP_002283.3:p.Gln1488Glu