Canonical Allele Identifier: CA352715809
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1239969732
gnomAD v4: 3-49125026-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125026T>C , CM000665.2:g.49125026T>C GRCh38
NC_000003.11:g.49162459T>C , CM000665.1:g.49162459T>C GRCh37
NC_000003.10:g.49137463T>C NCBI36
NG_008094.1:g.13141A>G
NG_054716.1:g.913A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2864A>G MANE Select ENSP00000307156.4:p.His955Arg
ENST00000305544.8:c.2864A>G ENSP00000307156.4:p.His955Arg
ENST00000418109.5:c.2864A>G ENSP00000388325.1:p.His955Arg
ENST00000462930.5:n.271A>G
ENST00000464891.5:n.597A>G
ENST00000483057.1:n.464A>G
ENST00000486298.5:n.569A>G
ENST00000542580.1:n.179A>G
NM_002292.3:c.2864A>G NP_002283.3:p.His955Arg
XM_005265127.3:c.2864A>G XP_005265184.1:p.His955Arg
XM_005265127.4:c.2864A>G XP_005265184.1:p.His955Arg
NM_002292.4:c.2864A>G MANE Select NP_002283.3:p.His955Arg