Canonical Allele Identifier: CA025138

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38101
• ClinVar RCV Id: RCV000031683 ; RCV000218934 ; RCV001057532
• dbSNP Id: rs80359657
• gnomAD v3: 13-32356530-C-CA
• gnomAD v4: 13-32356530-C-CA
• COSMIC: COSM1366468 ; COSM1366469
• MyVariant Identifiers: chr13:g.32930672dupA (hg19) ; chr13:g.32930668_32930669insA (hg19) ; chr13:g.32356535dupA (hg38)
• PubMed: PMID:12474142 ; PMID:16644204 ; PMID:20736950 ; PMID:27083775

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356535dup , CM000675.2:g.32356535dup	GRCh38
NC_000013.10:g.32930672dup , CM000675.1:g.32930672dup	GRCh37
NC_000013.9:g.31828672dup	NCBI36
NG_012772.3:g.46056dup , LRG_293:g.46056dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7543dup	ENSP00000434898.2:p.Thr2515AsnfsTer24
ENST00000528762.2:c.7543dup	ENSP00000433168.2:p.Thr2515AsnfsTer24
ENST00000530893.7:c.7174dup	ENSP00000499438.2:p.Thr2392AsnfsTer24
ENST00000665585.2:c.7543dup	ENSP00000499570.2:p.Thr2515AsnfsTer24
ENST00000666593.2:c.7543dup	ENSP00000499256.2:p.Thr2515AsnfsTer24
ENST00000700202.2:c.7543dup	ENSP00000514856.2:p.Thr2515AsnfsTer24
ENST00000700202.1:c.10dup	ENSP00000514856.1:p.Thr4AsnfsTer24
ENST00000380152.8:c.7543dup MANE Select	ENSP00000369497.3:p.Thr2515AsnfsTer24
ENST00000544455.6:c.7543dup	ENSP00000439902.1:p.Thr2515AsnfsTer24
ENST00000614259.2:c.7543dup	ENSP00000506251.1:p.Thr2515AsnfsTer24
ENST00000665585.1:c.108dup
ENST00000680887.1:c.7543dup	ENSP00000505508.1:p.Thr2515AsnfsTer24
ENST00000380152.7:c.7543dup	ENSP00000369497.3:p.Thr2515AsnfsTer24
ENST00000544455.5:c.7543dup	ENSP00000439902.1:p.Thr2515AsnfsTer24
ENST00000614259.1:n.7543dup
NM_000059.3:c.7543dup , LRG_293t1:c.7543dup	NP_000050.2:p.Thr2515AsnfsTer24
XM_011535203.1:c.7543dup	XP_011533505.1:p.Thr2515AsnfsTer24
XM_011535204.1:c.7447dup	XP_011533506.1:p.Thr2483AsnfsTer24
XM_011535205.1:c.7543dup	XP_011533507.1:p.Thr2515AsnfsTer24
NM_000059.4:c.7543dup MANE Select	NP_000050.3:p.Thr2515AsnfsTer24