Canonical Allele Identifier: CA352696361
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123247G>T , CM000665.2:g.49123247G>T GRCh38
NC_000003.11:g.49160680G>T , CM000665.1:g.49160680G>T GRCh37
NC_000003.10:g.49135684G>T NCBI36
NG_008094.1:g.14920C>A
NG_054716.1:g.2692C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4109C>A MANE Select ENSP00000307156.4:p.Ala1370Glu
ENST00000305544.8:c.4109C>A ENSP00000307156.4:p.Ala1370Glu
ENST00000418109.5:c.4109C>A ENSP00000388325.1:p.Ala1370Glu
ENST00000469665.1:n.339C>A
NM_002292.3:c.4109C>A NP_002283.3:p.Ala1370Glu
XM_005265127.3:c.4109C>A XP_005265184.1:p.Ala1370Glu
XM_005265127.4:c.4109C>A XP_005265184.1:p.Ala1370Glu
NM_002292.4:c.4109C>A MANE Select NP_002283.3:p.Ala1370Glu