Canonical Allele Identifier: CA433834279
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49162566T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125133T>G , CM000665.2:g.49125133T>G GRCh38
NC_000003.11:g.49162566T>G , CM000665.1:g.49162566T>G GRCh37
NC_000003.10:g.49137570T>G NCBI36
NG_008094.1:g.13034A>C
NG_054716.1:g.806A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2757A>C MANE Select ENSP00000307156.4:p.Pro919=
ENST00000305544.8:c.2757A>C ENSP00000307156.4:p.Pro919=
ENST00000418109.5:c.2757A>C ENSP00000388325.1:p.Pro919=
ENST00000462930.5:n.164A>C
ENST00000464891.5:n.490A>C
ENST00000483057.1:n.357A>C
ENST00000486298.5:n.462A>C
ENST00000542580.1:n.72A>C
NM_002292.3:c.2757A>C NP_002283.3:p.Pro919=
XM_005265127.3:c.2757A>C XP_005265184.1:p.Pro919=
XM_005265127.4:c.2757A>C XP_005265184.1:p.Pro919=
NM_002292.4:c.2757A>C MANE Select NP_002283.3:p.Pro919=