Canonical Allele Identifier: CA2394222

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 539737
• ClinVar RCV Id: RCV000649520 ; RCV003133460
• dbSNP Id: rs201756319
• ExAC: 3:49162597 A / G
• gnomAD v2: 3-49162597-A-G
• gnomAD v3: 3-49125164-A-G
• gnomAD v4: 3-49125164-A-G
• MyVariant Identifiers: chr3:g.49162597A>G (hg19) ; chr3:g.49125164A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125164A>G , CM000665.2:g.49125164A>G	GRCh38
NC_000003.11:g.49162597A>G , CM000665.1:g.49162597A>G	GRCh37
NC_000003.10:g.49137601A>G	NCBI36
NG_008094.1:g.13003T>C
NG_054716.1:g.775T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305544.9:c.2726T>C MANE Select	ENSP00000307156.4:p.Ile909Thr
ENST00000305544.8:c.2726T>C	ENSP00000307156.4:p.Ile909Thr
ENST00000418109.5:c.2726T>C	ENSP00000388325.1:p.Ile909Thr
ENST00000462930.5:n.133T>C
ENST00000464891.5:n.459T>C
ENST00000483057.1:n.326T>C
ENST00000486298.5:n.431T>C
ENST00000542580.1:n.41T>C
NM_002292.3:c.2726T>C	NP_002283.3:p.Ile909Thr
XM_005265127.3:c.2726T>C	XP_005265184.1:p.Ile909Thr
XM_005265127.4:c.2726T>C	XP_005265184.1:p.Ile909Thr
NM_002292.4:c.2726T>C MANE Select	NP_002283.3:p.Ile909Thr