Canonical Allele Identifier: CA433833841
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49162312T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49124879T>A , CM000665.2:g.49124879T>A GRCh38
NC_000003.11:g.49162312T>A , CM000665.1:g.49162312T>A GRCh37
NC_000003.10:g.49137316T>A NCBI36
NG_008094.1:g.13288A>T
NG_054716.1:g.1060A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2931A>T MANE Select ENSP00000307156.4:p.Ser977=
ENST00000305544.8:c.2931A>T ENSP00000307156.4:p.Ser977=
ENST00000418109.5:c.2931A>T ENSP00000388325.1:p.Ser977=
ENST00000462930.5:n.338A>T
ENST00000464891.5:n.664A>T
ENST00000483057.1:n.531A>T
ENST00000542580.1:n.246A>T
NM_002292.3:c.2931A>T NP_002283.3:p.Ser977=
XM_005265127.3:c.2931A>T XP_005265184.1:p.Ser977=
XM_005265127.4:c.2931A>T XP_005265184.1:p.Ser977=
NM_002292.4:c.2931A>T MANE Select NP_002283.3:p.Ser977=