Canonical Allele Identifier: CA2756174310
Gene: LAMB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122884_49122885insTATCATTAAAAAAAAAA , CM000665.2:g.49122884_49122885insTATCATTAAAAAAAAAA GRCh38
NC_000003.11:g.49160317_49160318insTATCATTAAAAAAAAAA , CM000665.1:g.49160317_49160318insTATCATTAAAAAAAAAA GRCh37
NC_000003.10:g.49135321_49135322insTATCATTAAAAAAAAAA NCBI36
NG_008094.1:g.15282_15283insTTTTTTTTTTAATGATA
NG_054716.1:g.3054_3055insTTTTTTTTTTAATGATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4392_4393insTTTTTTTTTTAATGATA MANE Select ENSP00000307156.4:p.Arg1465PhefsTer4
ENST00000305544.8:c.4392_4393insTTTTTTTTTTAATGATA ENSP00000307156.4:p.Arg1465PhefsTer4
ENST00000418109.5:c.4392_4393insTTTTTTTTTTAATGATA ENSP00000388325.1:p.Arg1465PhefsTer4
ENST00000469665.1:n.701_702insTTTTTTTTTTAATGATA
NM_002292.3:c.4392_4393insTTTTTTTTTTAATGATA NP_002283.3:p.Arg1465PhefsTer4
XM_005265127.3:c.4392_4393insTTTTTTTTTTAATGATA XP_005265184.1:p.Arg1465PhefsTer4
XM_005265127.4:c.4392_4393insTTTTTTTTTTAATGATA XP_005265184.1:p.Arg1465PhefsTer4
NM_002292.4:c.4392_4393insTTTTTTTTTTAATGATA MANE Select NP_002283.3:p.Arg1465PhefsTer4
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