Canonical Allele Identifier: CA352714889

Gene: LAMB2

Linked Data

• dbSNP Id: rs1575532790
• gnomAD v3: 3-49124890-C-T
• gnomAD v4: 3-49124890-C-T
• MyVariant Identifiers: chr3:g.49162323C>T (hg19) ; chr3:g.49124890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49124890C>T , CM000665.2:g.49124890C>T	GRCh38
NC_000003.11:g.49162323C>T , CM000665.1:g.49162323C>T	GRCh37
NC_000003.10:g.49137327C>T	NCBI36
NG_008094.1:g.13277G>A
NG_054716.1:g.1049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2920G>A MANE Select	ENSP00000307156.4:p.Gly974Arg
ENST00000305544.8:c.2920G>A	ENSP00000307156.4:p.Gly974Arg
ENST00000418109.5:c.2920G>A	ENSP00000388325.1:p.Gly974Arg
ENST00000462930.5:n.327G>A
ENST00000464891.5:n.653G>A
ENST00000483057.1:n.520G>A
ENST00000542580.1:n.235G>A
NM_002292.3:c.2920G>A	NP_002283.3:p.Gly974Arg
XM_005265127.3:c.2920G>A	XP_005265184.1:p.Gly974Arg
XM_005265127.4:c.2920G>A	XP_005265184.1:p.Gly974Arg
NM_002292.4:c.2920G>A MANE Select	NP_002283.3:p.Gly974Arg