Canonical Allele Identifier: CA1363339678
Gene: LAMB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122873_49122875delinsTGC , CM000665.2:g.49122873_49122875delinsTGC GRCh38
NC_000003.11:g.49160306_49160308delinsTGC , CM000665.1:g.49160306_49160308delinsTGC GRCh37
NC_000003.10:g.49135310_49135312delinsTGC NCBI36
NG_008094.1:g.15292_15294delinsGCA
NG_054716.1:g.3064_3066delinsGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4402_4404delinsGCA MANE Select ENSP00000307156.4:p.Ala1468=
ENST00000305544.8:c.4402_4404delinsGCA ENSP00000307156.4:p.Ala1468=
ENST00000418109.5:c.4402_4404delinsGCA ENSP00000388325.1:p.Ala1468=
ENST00000469665.1:n.711_713delinsGCA
NM_002292.3:c.4402_4404delinsGCA NP_002283.3:p.Ala1468=
XM_005265127.3:c.4402_4404delinsGCA XP_005265184.1:p.Ala1468=
XM_005265127.4:c.4402_4404delinsGCA XP_005265184.1:p.Ala1468=
NM_002292.4:c.4402_4404delinsGCA MANE Select NP_002283.3:p.Ala1468=