Canonical Allele Identifier: CA2393803

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 450393
• ClinVar RCV Id: RCV002294342 ; RCV001148047 ; RCV001707719 ; RCV000872737 ; RCV001148048
• dbSNP Id: rs148818522
• ExAC: 3:49160340 C / T
• gnomAD v2: 3-49160340-C-T
• gnomAD v3: 3-49122907-C-T
• gnomAD v4: 3-49122907-C-T
• MyVariant Identifiers: chr3:g.49160340C>T (hg19) ; chr3:g.49122907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122907C>T , CM000665.2:g.49122907C>T	GRCh38
NC_000003.11:g.49160340C>T , CM000665.1:g.49160340C>T	GRCh37
NC_000003.10:g.49135344C>T	NCBI36
NG_008094.1:g.15260G>A
NG_054716.1:g.3032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4370G>A MANE Select	ENSP00000307156.4:p.Arg1457Gln
ENST00000305544.8:c.4370G>A	ENSP00000307156.4:p.Arg1457Gln
ENST00000418109.5:c.4370G>A	ENSP00000388325.1:p.Arg1457Gln
ENST00000469665.1:n.679G>A
NM_002292.3:c.4370G>A	NP_002283.3:p.Arg1457Gln
XM_005265127.3:c.4370G>A	XP_005265184.1:p.Arg1457Gln
XM_005265127.4:c.4370G>A	XP_005265184.1:p.Arg1457Gln
NM_002292.4:c.4370G>A MANE Select	NP_002283.3:p.Arg1457Gln