LDH info

Canonical Allele Identifier: CA10589041
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 266975
ClinVar RCV Id: RCV000257447
dbSNP Id: rs886040677

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330931dup , CM000675.2:g.32330931dup GRCh38
NC_000013.10:g.32905068dup , CM000675.1:g.32905068dup GRCh37
NC_000013.9:g.31803068dup NCBI36
NG_012772.3:g.20452dup , LRG_293:g.20452dup

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.694dup , LRG_293t1:c.694dup NP_000050.2:p.Tyr232LeufsTer6
XM_011535203.1:c.694dup XP_011533505.1:p.Tyr232LeufsTer6
XM_011535204.1:c.694dup XP_011533506.1:p.Tyr232LeufsTer6
XM_011535205.1:c.694dup XP_011533507.1:p.Tyr232LeufsTer6
ENST00000380152.7:c.694dup ENSP00000369497.3:p.Tyr232LeufsTer6
ENST00000530893.6:n.892dup
ENST00000544455.5:c.694dup ENSP00000439902.1:p.Tyr232LeufsTer6
ENST00000614259.1:n.694dup