Canonical Allele Identifier: CA016113
Gene: BRCA2 HGNC NCBI
BRCA Exchange:
Summary View CA016113
Pop AF ACMG Code (provisional) BA1 (met)
COSMIC:
COSN15653643 (not active)
COSN15655157 (not active)
COSN17153841 (not active)
MyVariant.info:
GRCh38 chr13:g.32316435G>A
GRCh37 chr13:g.32890572G>A
gnomAD v2:
13:32890572 G / A
gnomAD v3:
13:32316435 G / A
gnomAD v4:
chr13-32316435-G-A
Joint Max Group AF 0.41395866 (EAS)
Genomes Max Group AF 0.37268378 (EAS)
Exomes Max Group AF 0.41781308 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32316435G>A , CM000675.2:g.32316435G>A GRCh38
NC_000013.10:g.32890572G>A , CM000675.1:g.32890572G>A GRCh37
NC_000013.9:g.31788572G>A NCBI36
NG_012772.3:g.5956G>A , LRG_293:g.5956G>A
NG_017006.1:g.520C>T
NG_017006.2:g.3929C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.-26G>A ENSP00000434898.2:n.-26G>A
ENST00000528762.2:c.-26G>A ENSP00000433168.2:n.-26G>A
ENST00000530893.7:c.-391G>A ENSP00000499438.2:n.-391G>A
ENST00000665585.2:c.-26G>A ENSP00000499570.2:n.-26G>A
ENST00000666593.2:c.-26G>A ENSP00000499256.2:n.-26G>A
ENST00000700202.2:c.-26G>A ENSP00000514856.2:n.-26G>A
ENST00000700199.1:n.99G>A
ENST00000700200.1:n.99G>A
ENST00000700201.1:c.-26G>A ENSP00000514855.1:n.-26G>A
ENST00000380152.8:c.-26G>A MANE Select ENSP00000369497.3:n.-26G>A
ENST00000544455.6:c.-26G>A ENSP00000439902.1:n.-26G>A
ENST00000680887.1:c.-26G>A ENSP00000505508.1:n.-26G>A
ENST00000380152.7:c.-26G>A ENSP00000369497.3:n.-26G>A
ENST00000530893.6:n.177G>A
ENST00000544455.5:c.-26G>A ENSP00000439902.1:n.-26G>A
NM_000059.3:c.-26G>A , LRG_293t1:c.-26G>A NP_000050.2:n.-26G>A
XM_011535203.1:c.-26G>A XP_011533505.1:n.-26G>A
XM_011535204.1:c.-26G>A XP_011533506.1:n.-26G>A
XM_011535205.1:c.-26G>A XP_011533507.1:n.-26G>A
NM_000059.4:c.-26G>A MANE Select NP_000050.3:n.-26G>A
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