Canonical Allele Identifier: CA2393867

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 472484
• ClinVar RCV Id: RCV000559112 ; RCV001145299 ; RCV001145300 ; RCV001764596 ; RCV003952833
• dbSNP Id: rs112933248
• ExAC: 3:49160671 T / C
• gnomAD v2: 3-49160671-T-C
• gnomAD v3: 3-49123238-T-C
• gnomAD v4: 3-49123238-T-C
• COSMIC: COSM4118439
• MyVariant Identifiers: chr3:g.49160671T>C (hg19) ; chr3:g.49123238T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49123238T>C , CM000665.2:g.49123238T>C	GRCh38
NC_000003.11:g.49160671T>C , CM000665.1:g.49160671T>C	GRCh37
NC_000003.10:g.49135675T>C	NCBI36
NG_008094.1:g.14929A>G
NG_054716.1:g.2701A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4118A>G MANE Select	ENSP00000307156.4:p.Asp1373Gly
ENST00000305544.8:c.4118A>G	ENSP00000307156.4:p.Asp1373Gly
ENST00000418109.5:c.4118A>G	ENSP00000388325.1:p.Asp1373Gly
ENST00000469665.1:n.348A>G
NM_002292.3:c.4118A>G	NP_002283.3:p.Asp1373Gly
XM_005265127.3:c.4118A>G	XP_005265184.1:p.Asp1373Gly
XM_005265127.4:c.4118A>G	XP_005265184.1:p.Asp1373Gly
NM_002292.4:c.4118A>G MANE Select	NP_002283.3:p.Asp1373Gly