Canonical Allele Identifier: CA2580086908

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2144940
• ClinVar RCV Id: RCV003064778
• dbSNP Id: rs2138695309

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315582G>C , CM000675.2:g.32315582G>C	GRCh38
NC_000013.10:g.32889719G>C , CM000675.1:g.32889719G>C	GRCh37
NC_000013.9:g.31787719G>C	NCBI36
NG_012772.3:g.5103G>C , LRG_293:g.5103G>C
NG_017006.1:g.1373C>G
NG_017006.2:g.4782C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-125G>C	ENSP00000434898.2:n.-125G>C
ENST00000528762.2:c.-125G>C	ENSP00000433168.2:n.-125G>C
ENST00000530893.7:c.-490G>C	ENSP00000499438.2:n.-490G>C
ENST00000665585.2:c.-125G>C	ENSP00000499570.2:n.-125G>C
ENST00000666593.2:c.-125G>C	ENSP00000499256.2:n.-125G>C
ENST00000700202.2:c.-125G>C	ENSP00000514856.2:n.-125G>C
ENST00000380152.8:c.-125G>C MANE Select	ENSP00000369497.3:n.-125G>C
ENST00000544455.6:c.-40+437G>C	ENSP00000439902.1:n.-40+437G>C
ENST00000380152.7:c.-125G>C	ENSP00000369497.3:n.-125G>C
ENST00000530893.6:n.78G>C
ENST00000544455.5:c.-125G>C	ENSP00000439902.1:n.-125G>C
NM_000059.3:c.-125G>C , LRG_293t1:c.-125G>C	NP_000050.2:n.-125G>C
XM_011535203.1:c.-40+437G>C	XP_011533505.1:n.-40+437G>C
XM_011535204.1:c.-125G>C	XP_011533506.1:n.-125G>C
XM_011535205.1:c.-125G>C	XP_011533507.1:n.-125G>C
NM_000059.4:c.-125G>C MANE Select	NP_000050.3:n.-125G>C