Canonical Allele Identifier: CA2394198

Gene: LAMB2

Linked Data

• dbSNP Id: rs778201233
• ExAC: 3:49162502 T / G
• gnomAD v2: 3-49162502-T-G
• gnomAD v4: 3-49125069-T-G
• MyVariant Identifiers: chr3:g.49162502T>G (hg19) ; chr3:g.49125069T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125069T>G , CM000665.2:g.49125069T>G	GRCh38
NC_000003.11:g.49162502T>G , CM000665.1:g.49162502T>G	GRCh37
NC_000003.10:g.49137506T>G	NCBI36
NG_008094.1:g.13098A>C
NG_054716.1:g.870A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2821A>C MANE Select	ENSP00000307156.4:p.Thr941Pro
ENST00000305544.8:c.2821A>C	ENSP00000307156.4:p.Thr941Pro
ENST00000418109.5:c.2821A>C	ENSP00000388325.1:p.Thr941Pro
ENST00000462930.5:n.228A>C
ENST00000464891.5:n.554A>C
ENST00000483057.1:n.421A>C
ENST00000486298.5:n.526A>C
ENST00000542580.1:n.136A>C
NM_002292.3:c.2821A>C	NP_002283.3:p.Thr941Pro
XM_005265127.3:c.2821A>C	XP_005265184.1:p.Thr941Pro
XM_005265127.4:c.2821A>C	XP_005265184.1:p.Thr941Pro
NM_002292.4:c.2821A>C MANE Select	NP_002283.3:p.Thr941Pro