Canonical Allele Identifier: CA025872
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38193
ClinVar RCV Id: RCV000031776 RCV000034469 RCV000163016 RCV000428227 RCV000769706 RCV001086936
dbSNP Id: rs45469092
ExAC: 13:32953616 C / T
gnomAD v2: 13-32953616-C-T
gnomAD v3: 13-32379479-C-T
gnomAD v4: 13-32379479-C-T
COSMIC: COSM2071543 COSM2071544
MyVariant Identifiers: chr13:g.32953616C>T (hg19) chr13:g.32379479C>T (hg38)
PubMed: PMID:10923033 PMID:17924331 PMID:18284688 PMID:18418466 PMID:18451181 PMID:18824701 PMID:19043619 PMID:21990134 PMID:22476429 PMID:22703879 PMID:22771033 PMID:23108138 PMID:23415752 PMID:24323938
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379479C>T , CM000675.2:g.32379479C>T GRCh38
NC_000013.10:g.32953616C>T , CM000675.1:g.32953616C>T GRCh37
NC_000013.9:g.31851616C>T NCBI36
NG_012772.3:g.69000C>T , LRG_293:g.69000C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8917C>T ENSP00000434898.2:p.Arg2973Cys
ENST00000528762.2:c.*284C>T ENSP00000433168.2:n.*284C>T
ENST00000530893.7:c.8548C>T ENSP00000499438.2:p.Arg2850Cys
ENST00000665585.2:c.*479C>T ENSP00000499570.2:n.*479C>T
ENST00000666593.2:c.8917C>T ENSP00000499256.2:p.Arg2973Cys
ENST00000700202.2:c.8917C>T ENSP00000514856.2:p.Arg2973Cys
ENST00000700202.1:c.1384C>T ENSP00000514856.1:p.Arg462Cys
ENST00000700203.1:n.1044C>T
ENST00000380152.8:c.8917C>T MANE Select ENSP00000369497.3:p.Arg2973Cys
ENST00000544455.6:c.8917C>T ENSP00000439902.1:p.Arg2973Cys
ENST00000614259.2:c.8925C>T ENSP00000506251.1:n.8925C>T
ENST00000665585.1:c.1795C>T
ENST00000680887.1:c.8917C>T ENSP00000505508.1:p.Arg2973Cys
ENST00000380152.7:c.8917C>T ENSP00000369497.3:p.Arg2973Cys
ENST00000528762.1:c.479C>T ENSP00000433168.1:n.479C>T
ENST00000544455.5:c.8917C>T ENSP00000439902.1:p.Arg2973Cys
NM_000059.3:c.8917C>T , LRG_293t1:c.8917C>T NP_000050.2:p.Arg2973Cys
XM_011535203.1:c.8917C>T XP_011533505.1:p.Arg2973Cys
XM_011535204.1:c.8821C>T XP_011533506.1:p.Arg2941Cys
XM_011535205.1:c.8755-271C>T XP_011533507.1:n.8755-271C>T
NM_000059.4:c.8917C>T MANE Select NP_000050.3:p.Arg2973Cys
Search 100 bp 5'
Search 100 bp 3'