Canonical Allele Identifier: CA352716679
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125093G>T , CM000665.2:g.49125093G>T GRCh38
NC_000003.11:g.49162526G>T , CM000665.1:g.49162526G>T GRCh37
NC_000003.10:g.49137530G>T NCBI36
NG_008094.1:g.13074C>A
NG_054716.1:g.846C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2797C>A MANE Select ENSP00000307156.4:p.Pro933Thr
ENST00000305544.8:c.2797C>A ENSP00000307156.4:p.Pro933Thr
ENST00000418109.5:c.2797C>A ENSP00000388325.1:p.Pro933Thr
ENST00000462930.5:n.204C>A
ENST00000464891.5:n.530C>A
ENST00000483057.1:n.397C>A
ENST00000486298.5:n.502C>A
ENST00000542580.1:n.112C>A
NM_002292.3:c.2797C>A NP_002283.3:p.Pro933Thr
XM_005265127.3:c.2797C>A XP_005265184.1:p.Pro933Thr
XM_005265127.4:c.2797C>A XP_005265184.1:p.Pro933Thr
NM_002292.4:c.2797C>A MANE Select NP_002283.3:p.Pro933Thr