Canonical Allele Identifier: CA1363339709
Gene: LAMB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122897_49122899delinsCTG , CM000665.2:g.49122897_49122899delinsCTG GRCh38
NC_000003.11:g.49160330_49160332delinsCTG , CM000665.1:g.49160330_49160332delinsCTG GRCh37
NC_000003.10:g.49135334_49135336delinsCTG NCBI36
NG_008094.1:g.15268_15270delinsCAG
NG_054716.1:g.3040_3042delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4378_4380delinsCAG MANE Select ENSP00000307156.4:p.Gln1460=
ENST00000305544.8:c.4378_4380delinsCAG ENSP00000307156.4:p.Gln1460=
ENST00000418109.5:c.4378_4380delinsCAG ENSP00000388325.1:p.Gln1460=
ENST00000469665.1:n.687_689delinsCAG
NM_002292.3:c.4378_4380delinsCAG NP_002283.3:p.Gln1460=
XM_005265127.3:c.4378_4380delinsCAG XP_005265184.1:p.Gln1460=
XM_005265127.4:c.4378_4380delinsCAG XP_005265184.1:p.Gln1460=
NM_002292.4:c.4378_4380delinsCAG MANE Select NP_002283.3:p.Gln1460=