Canonical Allele Identifier: CA433834434
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49162811C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125378C>T , CM000665.2:g.49125378C>T GRCh38
NC_000003.11:g.49162811C>T , CM000665.1:g.49162811C>T GRCh37
NC_000003.10:g.49137815C>T NCBI36
NG_008094.1:g.12789G>A
NG_054716.1:g.561G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2595G>A MANE Select ENSP00000307156.4:p.Gln865=
ENST00000305544.8:c.2595G>A ENSP00000307156.4:p.Gln865=
ENST00000418109.5:c.2595G>A ENSP00000388325.1:p.Gln865=
ENST00000462930.5:n.2G>A
ENST00000464891.5:n.344G>A
ENST00000477701.1:n.468G>A
ENST00000483057.1:n.195G>A
ENST00000486298.5:n.426-209G>A
NM_002292.3:c.2595G>A NP_002283.3:p.Gln865=
XM_005265127.3:c.2595G>A XP_005265184.1:p.Gln865=
XM_005265127.4:c.2595G>A XP_005265184.1:p.Gln865=
NM_002292.4:c.2595G>A MANE Select NP_002283.3:p.Gln865=