Canonical Allele Identifier: CA16619803
Gene: BRCA2 HGNC NCBI
BRCA Exchange:
Summary View CA16619803
Pop AF ACMG Code (provisional) PM2_Supporting (met)
MyVariant.info:
GRCh38 chr13:g.32398644A>C
GRCh37 chr13:g.32972781A>C
Revel Score:
ENST00000380152 (MANE Select) 0.034
ENST00000544455 0.034
gnomAD v3:
13:32398644 A / C
gnomAD v4:
chr13-32398644-A-C
Joint Max Group AF 0.00007255 (EAS)
Exomes Max Group AF 0.00008199 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398644A>C , CM000675.2:g.32398644A>C GRCh38
NC_000013.10:g.32972781A>C , CM000675.1:g.32972781A>C GRCh37
NC_000013.9:g.31870781A>C NCBI36
NG_012772.3:g.88165A>C , LRG_293:g.88165A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*654A>C ENSP00000434898.2:n.*654A>C
ENST00000528762.2:c.*1498A>C ENSP00000433168.2:n.*1498A>C
ENST00000530893.7:c.9762A>C ENSP00000499438.2:p.Glu3254Asp
ENST00000665585.2:c.*1693A>C ENSP00000499570.2:n.*1693A>C
ENST00000700202.2:c.10080A>C ENSP00000514856.2:p.Glu3360Asp
ENST00000700202.1:c.2547A>C ENSP00000514856.1:p.Glu849Asp
ENST00000700203.1:n.2258A>C
ENST00000380152.8:c.10131A>C MANE Select ENSP00000369497.3:p.Glu3377Asp
ENST00000544455.6:c.10131A>C ENSP00000439902.1:p.Glu3377Asp
ENST00000614259.2:c.10139A>C ENSP00000506251.1:n.10139A>C
ENST00000680887.1:c.10131A>C ENSP00000505508.1:p.Glu3377Asp
ENST00000380152.7:c.10131A>C ENSP00000369497.3:p.Glu3377Asp
ENST00000544455.5:c.10131A>C ENSP00000439902.1:p.Glu3377Asp
NM_000059.3:c.10131A>C , LRG_293t1:c.10131A>C NP_000050.2:p.Glu3377Asp
XM_011535203.1:c.10131A>C XP_011533505.1:p.Glu3377Asp
XM_011535204.1:c.10035A>C XP_011533506.1:p.Glu3345Asp
NM_000059.4:c.10131A>C MANE Select NP_000050.3:p.Glu3377Asp
Search 100 bp 5'
Search 100 bp 3'