Canonical Allele Identifier: CA352720833
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49125465-C-G

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