Canonical Allele Identifier: CA026319
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52910
ClinVar RCV Id: RCV000045908 RCV000077478 RCV000131346 RCV000195340 RCV000301085 RCV000513762 RCV001357526 RCV002250524
dbSNP Id: rs56121817
ExAC: 13:32972525 C / T
gnomAD v2: 13-32972525-C-T
gnomAD v3: 13-32398388-C-T
gnomAD v4: 13-32398388-C-T
COSMIC: COSM4990374 COSM4990375
MyVariant Identifiers: chr13:g.32972525C>T (hg19) chr13:g.32398388C>T (hg38)
PubMed: PMID:10923033 PMID:15800615 PMID:17087817 PMID:18593900 PMID:19540122 PMID:20104584 PMID:21520273 PMID:23704879 PMID:24323938 PMID:24372583 PMID:26295337 PMID:26577449
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398388C>T , CM000675.2:g.32398388C>T GRCh38
NC_000013.10:g.32972525C>T , CM000675.1:g.32972525C>T GRCh37
NC_000013.9:g.31870525C>T NCBI36
NG_012772.3:g.87909C>T , LRG_293:g.87909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*398C>T ENSP00000434898.2:n.*398C>T
ENST00000528762.2:c.*1242C>T ENSP00000433168.2:n.*1242C>T
ENST00000530893.7:c.9506C>T ENSP00000499438.2:p.Pro3169Leu
ENST00000665585.2:c.*1437C>T ENSP00000499570.2:n.*1437C>T
ENST00000700202.2:c.9824C>T ENSP00000514856.2:p.Pro3275Leu
ENST00000700202.1:c.2291C>T ENSP00000514856.1:p.Pro764Leu
ENST00000700203.1:n.2002C>T
ENST00000380152.8:c.9875C>T MANE Select ENSP00000369497.3:p.Pro3292Leu
ENST00000544455.6:c.9875C>T ENSP00000439902.1:p.Pro3292Leu
ENST00000614259.2:c.9883C>T ENSP00000506251.1:n.9883C>T
ENST00000680887.1:c.9875C>T ENSP00000505508.1:p.Pro3292Leu
ENST00000380152.7:c.9875C>T ENSP00000369497.3:p.Pro3292Leu
ENST00000533776.1:n.463C>T
ENST00000544455.5:c.9875C>T ENSP00000439902.1:p.Pro3292Leu
NM_000059.3:c.9875C>T , LRG_293t1:c.9875C>T NP_000050.2:p.Pro3292Leu
XM_011535203.1:c.9875C>T XP_011533505.1:p.Pro3292Leu
XM_011535204.1:c.9779C>T XP_011533506.1:p.Pro3260Leu
NM_000059.4:c.9875C>T MANE Select NP_000050.3:p.Pro3292Leu
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