Canonical Allele Identifier: CA010709
Gene: BRCA2 HGNC NCBI
BRCA Exchange:
Summary View CA010709
Pop AF ACMG Code (provisional) BA1 (met)
MyVariant.info:
GRCh38 chr13:g.32398875A>C
GRCh37 chr13:g.32973012A>C
gnomAD v2:
13:32973012 A / C
gnomAD v3:
13:32398875 A / C
gnomAD v4:
chr13-32398875-A-C
Joint Max Group AF 0.2200123 (MID)
Genomes Max Group AF 0.21898975 (SAS)
Exomes Max Group AF 0.21988161 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398875A>C , CM000675.2:g.32398875A>C GRCh38
NC_000013.10:g.32973012A>C , CM000675.1:g.32973012A>C GRCh37
NC_000013.9:g.31871012A>C NCBI36
NG_012772.3:g.88396A>C , LRG_293:g.88396A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*885A>C ENSP00000434898.2:n.*885A>C
ENST00000528762.2:c.*1729A>C ENSP00000433168.2:n.*1729A>C
ENST00000530893.7:c.*105A>C ENSP00000499438.2:n.*105A>C
ENST00000665585.2:c.*1924A>C ENSP00000499570.2:n.*1924A>C
ENST00000700202.2:c.*105A>C ENSP00000514856.2:n.*105A>C
ENST00000700203.1:n.2489A>C
ENST00000380152.8:c.*105A>C MANE Select ENSP00000369497.3:n.*105A>C
ENST00000544455.6:c.*105A>C ENSP00000439902.1:n.*105A>C
ENST00000614259.2:c.10370A>C ENSP00000506251.1:n.10370A>C
ENST00000680887.1:c.*105A>C ENSP00000505508.1:n.*105A>C
ENST00000380152.7:c.*105A>C ENSP00000369497.3:n.*105A>C
ENST00000544455.5:c.*105A>C ENSP00000439902.1:n.*105A>C
NM_000059.3:c.*105A>C , LRG_293t1:c.*105A>C NP_000050.2:n.*105A>C
XM_011535203.1:c.*105A>C XP_011533505.1:n.*105A>C
XM_011535204.1:c.*105A>C XP_011533506.1:n.*105A>C
NM_000059.4:c.*105A>C MANE Select NP_000050.3:n.*105A>C
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