Canonical Allele Identifier: CA352720833

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49125465-C-G
• MyVariant Identifiers: chr3:g.49162898C>G (hg19) ; chr3:g.49125465C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125465C>G , CM000665.2:g.49125465C>G	GRCh38
NC_000003.11:g.49162898C>G , CM000665.1:g.49162898C>G	GRCh37
NC_000003.10:g.49137902C>G	NCBI36
NG_008094.1:g.12702G>C
NG_054716.1:g.474G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2508G>C MANE Select	ENSP00000307156.4:p.Glu836Asp
ENST00000305544.8:c.2508G>C	ENSP00000307156.4:p.Glu836Asp
ENST00000418109.5:c.2508G>C	ENSP00000388325.1:p.Glu836Asp
ENST00000464891.5:n.257G>C
ENST00000477701.1:n.381G>C
ENST00000483057.1:n.108G>C
ENST00000486298.5:n.426-296G>C
NM_002292.3:c.2508G>C	NP_002283.3:p.Glu836Asp
XM_005265127.3:c.2508G>C	XP_005265184.1:p.Glu836Asp
XM_005265127.4:c.2508G>C	XP_005265184.1:p.Glu836Asp
NM_002292.4:c.2508G>C MANE Select	NP_002283.3:p.Glu836Asp