Canonical Allele Identifier: CA433834379

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49125330-C-T
• MyVariant Identifiers: chr3:g.49162763C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125330C>T , CM000665.2:g.49125330C>T	GRCh38
NC_000003.11:g.49162763C>T , CM000665.1:g.49162763C>T	GRCh37
NC_000003.10:g.49137767C>T	NCBI36
NG_008094.1:g.12837G>A
NG_054716.1:g.609G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2643G>A MANE Select	ENSP00000307156.4:p.Gly881=
ENST00000305544.8:c.2643G>A	ENSP00000307156.4:p.Gly881=
ENST00000418109.5:c.2643G>A	ENSP00000388325.1:p.Gly881=
ENST00000462930.5:n.50G>A
ENST00000464891.5:n.392G>A
ENST00000477701.1:n.516G>A
ENST00000483057.1:n.243G>A
ENST00000486298.5:n.426-161G>A
NM_002292.3:c.2643G>A	NP_002283.3:p.Gly881=
XM_005265127.3:c.2643G>A	XP_005265184.1:p.Gly881=
XM_005265127.4:c.2643G>A	XP_005265184.1:p.Gly881=
NM_002292.4:c.2643G>A MANE Select	NP_002283.3:p.Gly881=