Canonical Allele Identifier: CA2394669

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 258596
• ClinVar RCV Id: RCV000245018 ; RCV000262149 ; RCV000316156 ; RCV000875473 ; RCV002294122
• dbSNP Id: rs201999373
• ExAC: 3:49167683 C / T
• gnomAD v2: 3-49167683-C-T
• gnomAD v3: 3-49130250-C-T
• gnomAD v4: 3-49130250-C-T
• MyVariant Identifiers: chr3:g.49167683C>T (hg19) ; chr3:g.49130250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49130250C>T , CM000665.2:g.49130250C>T	GRCh38
NC_000003.11:g.49167683C>T , CM000665.1:g.49167683C>T	GRCh37
NC_000003.10:g.49142687C>T	NCBI36
NG_008094.1:g.7917G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.1206G>A MANE Select	ENSP00000307156.4:p.Arg402=
ENST00000305544.8:c.1206G>A	ENSP00000307156.4:p.Arg402=
ENST00000418109.5:c.1206G>A	ENSP00000388325.1:p.Arg402=
NM_002292.3:c.1206G>A	NP_002283.3:p.Arg402=
XM_005265127.3:c.1206G>A	XP_005265184.1:p.Arg402=
XM_005265127.4:c.1206G>A	XP_005265184.1:p.Arg402=
NM_002292.4:c.1206G>A MANE Select	NP_002283.3:p.Arg402=