Canonical Allele Identifier: CA433834399
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49162778T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125345T>G , CM000665.2:g.49125345T>G GRCh38
NC_000003.11:g.49162778T>G , CM000665.1:g.49162778T>G GRCh37
NC_000003.10:g.49137782T>G NCBI36
NG_008094.1:g.12822A>C
NG_054716.1:g.594A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2628A>C MANE Select ENSP00000307156.4:p.Pro876=
ENST00000305544.8:c.2628A>C ENSP00000307156.4:p.Pro876=
ENST00000418109.5:c.2628A>C ENSP00000388325.1:p.Pro876=
ENST00000462930.5:n.35A>C
ENST00000464891.5:n.377A>C
ENST00000477701.1:n.501A>C
ENST00000483057.1:n.228A>C
ENST00000486298.5:n.426-176A>C
NM_002292.3:c.2628A>C NP_002283.3:p.Pro876=
XM_005265127.3:c.2628A>C XP_005265184.1:p.Pro876=
XM_005265127.4:c.2628A>C XP_005265184.1:p.Pro876=
NM_002292.4:c.2628A>C MANE Select NP_002283.3:p.Pro876=