Canonical Allele Identifier: CA433834358
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49162754A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125321A>G , CM000665.2:g.49125321A>G GRCh38
NC_000003.11:g.49162754A>G , CM000665.1:g.49162754A>G GRCh37
NC_000003.10:g.49137758A>G NCBI36
NG_008094.1:g.12846T>C
NG_054716.1:g.618T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2652T>C MANE Select ENSP00000307156.4:p.Asp884=
ENST00000305544.8:c.2652T>C ENSP00000307156.4:p.Asp884=
ENST00000418109.5:c.2652T>C ENSP00000388325.1:p.Asp884=
ENST00000462930.5:n.59T>C
ENST00000464891.5:n.401T>C
ENST00000477701.1:n.525T>C
ENST00000483057.1:n.252T>C
ENST00000486298.5:n.426-152T>C
NM_002292.3:c.2652T>C NP_002283.3:p.Asp884=
XM_005265127.3:c.2652T>C XP_005265184.1:p.Asp884=
XM_005265127.4:c.2652T>C XP_005265184.1:p.Asp884=
NM_002292.4:c.2652T>C MANE Select NP_002283.3:p.Asp884=