Canonical Allele Identifier: CA2394155

Gene: LAMB2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49124865C>T , CM000665.2:g.49124865C>T	GRCh38
NC_000003.11:g.49162298C>T , CM000665.1:g.49162298C>T	GRCh37
NC_000003.10:g.49137302C>T	NCBI36
NG_008094.1:g.13302G>A
NG_054716.1:g.1074G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002292.4:c.2945G>A MANE Select	NP_002283.3:p.Arg982Gln
ENST00000305544.9:c.2945G>A MANE Select	ENSP00000307156.4:p.Arg982Gln
NM_002292.3:c.2945G>A	NP_002283.3:p.Arg982Gln
ENST00000305544.8:c.2945G>A	ENSP00000307156.4:p.Arg982Gln
ENST00000418109.5:c.2945G>A	ENSP00000388325.1:p.Arg982Gln
ENST00000462930.5:n.352G>A
ENST00000464891.5:n.678G>A
ENST00000483057.1:n.545G>A
ENST00000542580.1:n.260G>A
XM_005265127.3:c.2945G>A	XP_005265184.1:p.Arg982Gln
XM_005265127.4:c.2945G>A	XP_005265184.1:p.Arg982Gln