Canonical Allele Identifier: CA2394237

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 345997
• ClinVar RCV Id: RCV000276749 ; RCV000331713 ; RCV002520159
• dbSNP Id: rs369359244
• ExAC: 3:49162673 G / T
• gnomAD v2: 3-49162673-G-T
• gnomAD v3: 3-49125240-G-T
• gnomAD v4: 3-49125240-G-T
• MyVariant Identifiers: chr3:g.49162673G>T (hg19) ; chr3:g.49125240G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125240G>T , CM000665.2:g.49125240G>T	GRCh38
NC_000003.11:g.49162673G>T , CM000665.1:g.49162673G>T	GRCh37
NC_000003.10:g.49137677G>T	NCBI36
NG_008094.1:g.12927C>A
NG_054716.1:g.699C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2720+13C>A MANE Select	ENSP00000307156.4:n.2720+13C>A
ENST00000305544.8:c.2720+13C>A	ENSP00000307156.4:n.2720+13C>A
ENST00000418109.5:c.2720+13C>A	ENSP00000388325.1:n.2720+13C>A
ENST00000462930.5:n.127+13C>A
ENST00000464891.5:n.453+29C>A
ENST00000483057.1:n.320+13C>A
ENST00000486298.5:n.426-71C>A
NM_002292.3:c.2720+13C>A	NP_002283.3:n.2720+13C>A
XM_005265127.3:c.2720+13C>A	XP_005265184.1:n.2720+13C>A
XM_005265127.4:c.2720+13C>A	XP_005265184.1:n.2720+13C>A
NM_002292.4:c.2720+13C>A MANE Select	NP_002283.3:n.2720+13C>A