LDH info

Canonical Allele Identifier: CA658653665
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 441525

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32331011_32331014del , CM000675.2:g.32331011_32331014del GRCh38
NC_000013.10:g.32905148_32905151del , CM000675.1:g.32905148_32905151del GRCh37
NC_000013.9:g.31803148_31803151del NCBI36
NG_012772.3:g.20532_20535del , LRG_293:g.20532_20535del

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.774_777del , LRG_293t1:c.774_777del NP_000050.2:p.Arg259LysfsTer17
XM_011535203.1:c.774_777del XP_011533505.1:p.Arg259LysfsTer17
XM_011535204.1:c.774_777del XP_011533506.1:p.Arg259LysfsTer17
XM_011535205.1:c.774_777del XP_011533507.1:p.Arg259LysfsTer17
ENST00000380152.7:c.774_777del ENSP00000369497.3:p.Arg259LysfsTer17
ENST00000530893.6:n.972_975del
ENST00000544455.5:c.774_777del ENSP00000439902.1:p.Arg259LysfsTer17
ENST00000614259.1:n.774_777del