Canonical Allele Identifier: CA645538937
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125360_49125361delinsAT , CM000665.2:g.49125360_49125361delinsAT GRCh38
NC_000003.11:g.49162793_49162794delinsAT , CM000665.1:g.49162793_49162794delinsAT GRCh37
NC_000003.10:g.49137797_49137798delinsAT NCBI36
NG_008094.1:g.12806_12807delinsAT
NG_054716.1:g.578_579delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2612_2613delinsAT MANE Select ENSP00000307156.4:p.Phe871Tyr
ENST00000305544.8:c.2612_2613delinsAT ENSP00000307156.4:p.Phe871Tyr
ENST00000418109.5:c.2612_2613delinsAT ENSP00000388325.1:p.Phe871Tyr
ENST00000462930.5:n.19_20delinsAT
ENST00000464891.5:n.361_362delinsAT
ENST00000477701.1:n.485_486delinsAT
ENST00000483057.1:n.212_213delinsAT
ENST00000486298.5:n.426-192_426-191delinsAT
NM_002292.3:c.2612_2613delinsAT NP_002283.3:p.Phe871Tyr
XM_005265127.3:c.2612_2613delinsAT XP_005265184.1:p.Phe871Tyr
XM_005265127.4:c.2612_2613delinsAT XP_005265184.1:p.Phe871Tyr
NM_002292.4:c.2612_2613delinsAT MANE Select NP_002283.3:p.Phe871Tyr