Canonical Allele Identifier: CA543048837
Gene: LAMB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122325_49122335del , CM000665.2:g.49122325_49122335del GRCh38
NC_000003.11:g.49159758_49159768del , CM000665.1:g.49159758_49159768del GRCh37
NC_000003.10:g.49134762_49134772del NCBI36
NG_008094.1:g.15834_15844del
NG_054716.1:g.3606_3616del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4611_4621del MANE Select ENSP00000307156.4:p.Thr1538ArgfsTer9
ENST00000305544.8:c.4611_4621del ENSP00000307156.4:p.Thr1538ArgfsTer9
ENST00000418109.5:c.4611_4621del ENSP00000388325.1:p.Thr1538ArgfsTer9
ENST00000498377.1:n.266_276del
NM_002292.3:c.4611_4621del NP_002283.3:p.Thr1538ArgfsTer9
XM_005265127.3:c.4611_4621del XP_005265184.1:p.Thr1538ArgfsTer9
XM_005265127.4:c.4611_4621del XP_005265184.1:p.Thr1538ArgfsTer9
NM_002292.4:c.4611_4621del MANE Select NP_002283.3:p.Thr1538ArgfsTer9