Canonical Allele Identifier: CA433634113

Gene: LAMB2

Linked Data

• dbSNP Id: rs1395397823
• gnomAD v2: 3-49160267-A-C
• gnomAD v4: 3-49122834-A-C
• MyVariant Identifiers: chr3:g.49160267A>C (hg19) ; chr3:g.49122834A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122834A>C , CM000665.2:g.49122834A>C	GRCh38
NC_000003.11:g.49160267A>C , CM000665.1:g.49160267A>C	GRCh37
NC_000003.10:g.49135271A>C	NCBI36
NG_008094.1:g.15333T>G
NG_054716.1:g.3105T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4443T>G MANE Select	ENSP00000307156.4:p.Arg1481=
ENST00000305544.8:c.4443T>G	ENSP00000307156.4:p.Arg1481=
ENST00000418109.5:c.4443T>G	ENSP00000388325.1:p.Arg1481=
ENST00000469665.1:n.752T>G
NM_002292.3:c.4443T>G	NP_002283.3:p.Arg1481=
XM_005265127.3:c.4443T>G	XP_005265184.1:p.Arg1481=
XM_005265127.4:c.4443T>G	XP_005265184.1:p.Arg1481=
NM_002292.4:c.4443T>G MANE Select	NP_002283.3:p.Arg1481=