LDH info

Canonical Allele Identifier: CA387759865
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 801119
ClinVar RCV Id: RCV000985574

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330928A>C , CM000675.2:g.32330928A>C GRCh38
NC_000013.10:g.32905065A>C , CM000675.1:g.32905065A>C GRCh37
NC_000013.9:g.31803065A>C NCBI36
NG_012772.3:g.20449A>C , LRG_293:g.20449A>C

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.691A>C , LRG_293t1:c.691A>C NP_000050.2:p.Ser231Arg
XM_011535203.1:c.691A>C XP_011533505.1:p.Ser231Arg
XM_011535204.1:c.691A>C XP_011533506.1:p.Ser231Arg
XM_011535205.1:c.691A>C XP_011533507.1:p.Ser231Arg
ENST00000380152.7:c.691A>C ENSP00000369497.3:p.Ser231Arg
ENST00000530893.6:n.889A>C
ENST00000544455.5:c.691A>C ENSP00000439902.1:p.Ser231Arg
ENST00000614259.1:n.691A>C