LDH info

Canonical Allele Identifier: CA012337
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 125948
ClinVar RCV Id: RCV000112932

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32333020dup , CM000675.2:g.32333020dup GRCh38
NC_000013.10:g.32907157dup , CM000675.1:g.32907157dup GRCh37
NC_000013.9:g.31805157dup NCBI36
NG_012772.3:g.22541dup , LRG_293:g.22541dup

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.1542dup , LRG_293t1:c.1542dup NP_000050.2:p.Thr515AspfsTer12
XM_011535203.1:c.1542dup XP_011533505.1:p.Thr515AspfsTer12
XM_011535204.1:c.1542dup XP_011533506.1:p.Thr515AspfsTer12
XM_011535205.1:c.1542dup XP_011533507.1:p.Thr515AspfsTer12
ENST00000380152.7:c.1542dup ENSP00000369497.3:p.Thr515AspfsTer12
ENST00000530893.6:n.1740dup
ENST00000544455.5:c.1542dup ENSP00000439902.1:p.Thr515AspfsTer12
ENST00000614259.1:n.1542dup