Canonical Allele Identifier: CA543048635

Gene: LAMB2

Linked Data

• dbSNP Id: rs1560073186
• gnomAD v2: 3-49162597-A-AT
• gnomAD v4: 3-49125164-A-AT
• MyVariant Identifiers: chr3:g.49162597_49162598insT (hg19) ; chr3:g.49125164_49125165insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125165dup , CM000665.2:g.49125165dup	GRCh38
NC_000003.11:g.49162598dup , CM000665.1:g.49162598dup	GRCh37
NC_000003.10:g.49137602dup	NCBI36
NG_008094.1:g.13002dup
NG_054716.1:g.774dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2725dup MANE Select	ENSP00000307156.4:p.Ile909AsnfsTer23
ENST00000305544.8:c.2725dup	ENSP00000307156.4:p.Ile909AsnfsTer23
ENST00000418109.5:c.2725dup	ENSP00000388325.1:p.Ile909AsnfsTer23
ENST00000462930.5:n.132dup
ENST00000464891.5:n.458dup
ENST00000483057.1:n.325dup
ENST00000486298.5:n.430dup
ENST00000542580.1:n.40dup
NM_002292.3:c.2725dup	NP_002283.3:p.Ile909AsnfsTer23
XM_005265127.3:c.2725dup	XP_005265184.1:p.Ile909AsnfsTer23
XM_005265127.4:c.2725dup	XP_005265184.1:p.Ile909AsnfsTer23
NM_002292.4:c.2725dup MANE Select	NP_002283.3:p.Ile909AsnfsTer23