Canonical Allele Identifier: CA433834128
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49162512C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125079C>A , CM000665.2:g.49125079C>A GRCh38
NC_000003.11:g.49162512C>A , CM000665.1:g.49162512C>A GRCh37
NC_000003.10:g.49137516C>A NCBI36
NG_008094.1:g.13088G>T
NG_054716.1:g.860G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2811G>T MANE Select ENSP00000307156.4:p.Arg937=
ENST00000305544.8:c.2811G>T ENSP00000307156.4:p.Arg937=
ENST00000418109.5:c.2811G>T ENSP00000388325.1:p.Arg937=
ENST00000462930.5:n.218G>T
ENST00000464891.5:n.544G>T
ENST00000483057.1:n.411G>T
ENST00000486298.5:n.516G>T
ENST00000542580.1:n.126G>T
NM_002292.3:c.2811G>T NP_002283.3:p.Arg937=
XM_005265127.3:c.2811G>T XP_005265184.1:p.Arg937=
XM_005265127.4:c.2811G>T XP_005265184.1:p.Arg937=
NM_002292.4:c.2811G>T MANE Select NP_002283.3:p.Arg937=