LDH info

Canonical Allele Identifier: CA023808
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9318
dbSNP Id: rs11571658

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340630_32340631del , CM000675.2:g.32340630_32340631del GRCh38
NC_000013.10:g.32914767_32914768del , CM000675.1:g.32914767_32914768del GRCh37
NC_000013.9:g.31812767_31812768del NCBI36
NG_012772.3:g.30151_30152del , LRG_293:g.30151_30152del

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.6275_6276del , LRG_293t1:c.6275_6276del NP_000050.2:p.Leu2092ProfsTer7
XM_011535203.1:c.6275_6276del XP_011533505.1:p.Leu2092ProfsTer7
XM_011535204.1:c.6275_6276del XP_011533506.1:p.Leu2092ProfsTer7
XM_011535205.1:c.6275_6276del XP_011533507.1:p.Leu2092ProfsTer7
ENST00000380152.7:c.6275_6276del ENSP00000369497.3:p.Leu2092ProfsTer7
ENST00000544455.5:c.6275_6276del ENSP00000439902.1:p.Leu2092ProfsTer7
ENST00000614259.1:n.6275_6276del