Canonical Allele Identifier: CA352720836

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49125466-T-G
• MyVariant Identifiers: chr3:g.49162899T>G (hg19) ; chr3:g.49125466T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125466T>G , CM000665.2:g.49125466T>G	GRCh38
NC_000003.11:g.49162899T>G , CM000665.1:g.49162899T>G	GRCh37
NC_000003.10:g.49137903T>G	NCBI36
NG_008094.1:g.12701A>C
NG_054716.1:g.473A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2507A>C MANE Select	ENSP00000307156.4:p.Glu836Ala
ENST00000305544.8:c.2507A>C	ENSP00000307156.4:p.Glu836Ala
ENST00000418109.5:c.2507A>C	ENSP00000388325.1:p.Glu836Ala
ENST00000464891.5:n.256A>C
ENST00000477701.1:n.380A>C
ENST00000483057.1:n.107A>C
ENST00000486298.5:n.426-297A>C
NM_002292.3:c.2507A>C	NP_002283.3:p.Glu836Ala
XM_005265127.3:c.2507A>C	XP_005265184.1:p.Glu836Ala
XM_005265127.4:c.2507A>C	XP_005265184.1:p.Glu836Ala
NM_002292.4:c.2507A>C MANE Select	NP_002283.3:p.Glu836Ala