LDH info

Canonical Allele Identifier: CA023403
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9325
dbSNP Id: rs80359550

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340301del , CM000675.2:g.32340301del GRCh38
NC_000013.10:g.32914438del , CM000675.1:g.32914438del GRCh37
NC_000013.9:g.31812438del NCBI36
NG_012772.3:g.29822del , LRG_293:g.29822del

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.5946del , LRG_293t1:c.5946del NP_000050.2:p.Ser1982ArgfsTer22
XM_011535203.1:c.5946del XP_011533505.1:p.Ser1982ArgfsTer22
XM_011535204.1:c.5946del XP_011533506.1:p.Ser1982ArgfsTer22
XM_011535205.1:c.5946del XP_011533507.1:p.Ser1982ArgfsTer22
ENST00000380152.7:c.5946del ENSP00000369497.3:p.Ser1982ArgfsTer22
ENST00000544455.5:c.5946del ENSP00000439902.1:p.Ser1982ArgfsTer22
ENST00000614259.1:n.5946del