Canonical Allele Identifier: CA352692462
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122802T>C , CM000665.2:g.49122802T>C GRCh38
NC_000003.11:g.49160235T>C , CM000665.1:g.49160235T>C GRCh37
NC_000003.10:g.49135239T>C NCBI36
NG_008094.1:g.15365A>G
NG_054716.1:g.3137A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4475A>G MANE Select ENSP00000307156.4:p.Gln1492Arg
ENST00000305544.8:c.4475A>G ENSP00000307156.4:p.Gln1492Arg
ENST00000418109.5:c.4475A>G ENSP00000388325.1:p.Gln1492Arg
ENST00000469665.1:n.784A>G
NM_002292.3:c.4475A>G NP_002283.3:p.Gln1492Arg
XM_005265127.3:c.4475A>G XP_005265184.1:p.Gln1492Arg
XM_005265127.4:c.4475A>G XP_005265184.1:p.Gln1492Arg
NM_002292.4:c.4475A>G MANE Select NP_002283.3:p.Gln1492Arg