Canonical Allele Identifier: CA2756174309
Gene: LAMB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122881_49122882insG , CM000665.2:g.49122881_49122882insG GRCh38
NC_000003.11:g.49160314_49160315insG , CM000665.1:g.49160314_49160315insG GRCh37
NC_000003.10:g.49135318_49135319insG NCBI36
NG_008094.1:g.15285_15286insC
NG_054716.1:g.3057_3058insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4395_4396insC MANE Select ENSP00000307156.4:p.Ala1466ArgfsTer7
ENST00000305544.8:c.4395_4396insC ENSP00000307156.4:p.Ala1466ArgfsTer7
ENST00000418109.5:c.4395_4396insC ENSP00000388325.1:p.Ala1466ArgfsTer7
ENST00000469665.1:n.704_705insC
NM_002292.3:c.4395_4396insC NP_002283.3:p.Ala1466ArgfsTer7
XM_005265127.3:c.4395_4396insC XP_005265184.1:p.Ala1466ArgfsTer7
XM_005265127.4:c.4395_4396insC XP_005265184.1:p.Ala1466ArgfsTer7
NM_002292.4:c.4395_4396insC MANE Select NP_002283.3:p.Ala1466ArgfsTer7