Canonical Allele Identifier: CA2393788

Gene: LAMB2

Linked Data

• dbSNP Id: rs139490252
• ExAC: 3:49160269 G / A
• gnomAD v3: 3-49122836-G-A
• gnomAD v4: 3-49122836-G-A
• MyVariant Identifiers: chr3:g.49160269G>A (hg19) ; chr3:g.49122836G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122836G>A , CM000665.2:g.49122836G>A	GRCh38
NC_000003.11:g.49160269G>A , CM000665.1:g.49160269G>A	GRCh37
NC_000003.10:g.49135273G>A	NCBI36
NG_008094.1:g.15331C>T
NG_054716.1:g.3103C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4441C>T MANE Select	ENSP00000307156.4:p.Arg1481Cys
ENST00000305544.8:c.4441C>T	ENSP00000307156.4:p.Arg1481Cys
ENST00000418109.5:c.4441C>T	ENSP00000388325.1:p.Arg1481Cys
ENST00000469665.1:n.750C>T
NM_002292.3:c.4441C>T	NP_002283.3:p.Arg1481Cys
XM_005265127.3:c.4441C>T	XP_005265184.1:p.Arg1481Cys
XM_005265127.4:c.4441C>T	XP_005265184.1:p.Arg1481Cys
NM_002292.4:c.4441C>T MANE Select	NP_002283.3:p.Arg1481Cys