Canonical Allele Identifier: CA1363339762
Gene: LAMB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122950_49122953delinsTGCA , CM000665.2:g.49122950_49122953delinsTGCA GRCh38
NC_000003.11:g.49160383_49160386delinsTGCA , CM000665.1:g.49160383_49160386delinsTGCA GRCh37
NC_000003.10:g.49135387_49135390delinsTGCA NCBI36
NG_008094.1:g.15214_15217delinsTGCA
NG_054716.1:g.2986_2989delinsTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4324_4327delinsTGCA MANE Select ENSP00000307156.4:p.Cys1442=
ENST00000305544.8:c.4324_4327delinsTGCA ENSP00000307156.4:p.Cys1442=
ENST00000418109.5:c.4324_4327delinsTGCA ENSP00000388325.1:p.Cys1442=
ENST00000469665.1:n.633_636delinsTGCA
NM_002292.3:c.4324_4327delinsTGCA NP_002283.3:p.Cys1442=
XM_005265127.3:c.4324_4327delinsTGCA XP_005265184.1:p.Cys1442=
XM_005265127.4:c.4324_4327delinsTGCA XP_005265184.1:p.Cys1442=
NM_002292.4:c.4324_4327delinsTGCA MANE Select NP_002283.3:p.Cys1442=