Canonical Allele Identifier: CA352717585

Gene: LAMB2

Linked Data

• dbSNP Id: rs1575533133
• MyVariant Identifiers: chr3:g.49162601A>C (hg19) ; chr3:g.49125168A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125168A>C , CM000665.2:g.49125168A>C	GRCh38
NC_000003.11:g.49162601A>C , CM000665.1:g.49162601A>C	GRCh37
NC_000003.10:g.49137605A>C	NCBI36
NG_008094.1:g.12999T>G
NG_054716.1:g.771T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2722T>G MANE Select	ENSP00000307156.4:p.Cys908Gly
ENST00000305544.8:c.2722T>G	ENSP00000307156.4:p.Cys908Gly
ENST00000418109.5:c.2722T>G	ENSP00000388325.1:p.Cys908Gly
ENST00000462930.5:n.129T>G
ENST00000464891.5:n.455T>G
ENST00000483057.1:n.322T>G
ENST00000486298.5:n.427T>G
ENST00000542580.1:n.37T>G
NM_002292.3:c.2722T>G	NP_002283.3:p.Cys908Gly
XM_005265127.3:c.2722T>G	XP_005265184.1:p.Cys908Gly
XM_005265127.4:c.2722T>G	XP_005265184.1:p.Cys908Gly
NM_002292.4:c.2722T>G MANE Select	NP_002283.3:p.Cys908Gly