LDH info

Canonical Allele Identifier: CA273049
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 162101
dbSNP Id: rs690016538

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32331024dup , CM000675.2:g.32331024dup GRCh38
NC_000013.10:g.32905161dup , CM000675.1:g.32905161dup GRCh37
NC_000013.9:g.31803161dup NCBI36
NG_012772.3:g.20545dup , LRG_293:g.20545dup

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.787dup , LRG_293t1:c.787dup NP_000050.2:p.Ser263LysfsTer13
XM_011535203.1:c.787dup XP_011533505.1:p.Ser263LysfsTer13
XM_011535204.1:c.787dup XP_011533506.1:p.Ser263LysfsTer13
XM_011535205.1:c.787dup XP_011533507.1:p.Ser263LysfsTer13
ENST00000380152.7:c.787dup ENSP00000369497.3:p.Ser263LysfsTer13
ENST00000530893.6:n.985dup
ENST00000544455.5:c.787dup ENSP00000439902.1:p.Ser263LysfsTer13
ENST00000614259.1:n.787dup