Canonical Allele Identifier: CA433834103
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49162503A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125070A>T , CM000665.2:g.49125070A>T GRCh38
NC_000003.11:g.49162503A>T , CM000665.1:g.49162503A>T GRCh37
NC_000003.10:g.49137507A>T NCBI36
NG_008094.1:g.13097T>A
NG_054716.1:g.869T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2820T>A MANE Select ENSP00000307156.4:p.Ala940=
ENST00000305544.8:c.2820T>A ENSP00000307156.4:p.Ala940=
ENST00000418109.5:c.2820T>A ENSP00000388325.1:p.Ala940=
ENST00000462930.5:n.227T>A
ENST00000464891.5:n.553T>A
ENST00000483057.1:n.420T>A
ENST00000486298.5:n.525T>A
ENST00000542580.1:n.135T>A
NM_002292.3:c.2820T>A NP_002283.3:p.Ala940=
XM_005265127.3:c.2820T>A XP_005265184.1:p.Ala940=
XM_005265127.4:c.2820T>A XP_005265184.1:p.Ala940=
NM_002292.4:c.2820T>A MANE Select NP_002283.3:p.Ala940=