Canonical Allele Identifier: CA124113
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14536
ClinVar RCV Id: RCV000015635
dbSNP Id: rs121912492

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130815A>G , CM000665.2:g.49130815A>G GRCh38
NC_000003.11:g.49168248A>G , CM000665.1:g.49168248A>G GRCh37
NC_000003.10:g.49143252A>G NCBI36
NG_008094.1:g.7352T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.961T>C MANE Select ENSP00000307156.4:p.Cys321Arg
ENST00000305544.8:c.961T>C ENSP00000307156.4:p.Cys321Arg
ENST00000418109.5:c.961T>C ENSP00000388325.1:p.Cys321Arg
NM_002292.3:c.961T>C NP_002283.3:p.Cys321Arg
XM_005265127.3:c.961T>C XP_005265184.1:p.Cys321Arg
XM_005265127.4:c.961T>C XP_005265184.1:p.Cys321Arg
NM_002292.4:c.961T>C MANE Select NP_002283.3:p.Cys321Arg