LDH info

Canonical Allele Identifier: CA16619648
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 418882
ClinVar RCV Id: RCV000479765

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330929G>A , CM000675.2:g.32330929G>A GRCh38
NC_000013.10:g.32905066G>A , CM000675.1:g.32905066G>A GRCh37
NC_000013.9:g.31803066G>A NCBI36
NG_012772.3:g.20450G>A , LRG_293:g.20450G>A

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.692G>A , LRG_293t1:c.692G>A NP_000050.2:p.Ser231Asn
XM_011535203.1:c.692G>A XP_011533505.1:p.Ser231Asn
XM_011535204.1:c.692G>A XP_011533506.1:p.Ser231Asn
XM_011535205.1:c.692G>A XP_011533507.1:p.Ser231Asn
ENST00000380152.7:c.692G>A ENSP00000369497.3:p.Ser231Asn
ENST00000530893.6:n.890G>A
ENST00000544455.5:c.692G>A ENSP00000439902.1:p.Ser231Asn
ENST00000614259.1:n.692G>A