Canonical Allele Identifier: CA433834307
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49162574G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125141G>T , CM000665.2:g.49125141G>T GRCh38
NC_000003.11:g.49162574G>T , CM000665.1:g.49162574G>T GRCh37
NC_000003.10:g.49137578G>T NCBI36
NG_008094.1:g.13026C>A
NG_054716.1:g.798C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2749C>A MANE Select ENSP00000307156.4:p.Arg917=
ENST00000305544.8:c.2749C>A ENSP00000307156.4:p.Arg917=
ENST00000418109.5:c.2749C>A ENSP00000388325.1:p.Arg917=
ENST00000462930.5:n.156C>A
ENST00000464891.5:n.482C>A
ENST00000483057.1:n.349C>A
ENST00000486298.5:n.454C>A
ENST00000542580.1:n.64C>A
NM_002292.3:c.2749C>A NP_002283.3:p.Arg917=
XM_005265127.3:c.2749C>A XP_005265184.1:p.Arg917=
XM_005265127.4:c.2749C>A XP_005265184.1:p.Arg917=
NM_002292.4:c.2749C>A MANE Select NP_002283.3:p.Arg917=