Canonical Allele Identifier: CA026309

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 182303
• ClinVar RCV Id: RCV000160258 ; RCV000163339 ; RCV000411196 ; RCV000586788 ; RCV001085679
• dbSNP Id: rs730881598
• gnomAD v2: 13-32972487-A-G
• gnomAD v4: 13-32398350-A-G
• MyVariant Identifiers: chr13:g.32972487A>G (hg19) ; chr13:g.32398350A>G (hg38)
• PubMed: PMID:25451944

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398350A>G , CM000675.2:g.32398350A>G	GRCh38
NC_000013.10:g.32972487A>G , CM000675.1:g.32972487A>G	GRCh37
NC_000013.9:g.31870487A>G	NCBI36
NG_012772.3:g.87871A>G , LRG_293:g.87871A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*360A>G	ENSP00000434898.2:n.*360A>G
ENST00000528762.2:c.*1204A>G	ENSP00000433168.2:n.*1204A>G
ENST00000530893.7:c.9468A>G	ENSP00000499438.2:p.Leu3156=
ENST00000665585.2:c.*1399A>G	ENSP00000499570.2:n.*1399A>G
ENST00000700202.2:c.9786A>G	ENSP00000514856.2:p.Leu3262=
ENST00000700202.1:c.2253A>G	ENSP00000514856.1:p.Leu751=
ENST00000700203.1:n.1964A>G
ENST00000380152.8:c.9837A>G MANE Select	ENSP00000369497.3:p.Leu3279=
ENST00000544455.6:c.9837A>G	ENSP00000439902.1:p.Leu3279=
ENST00000614259.2:c.9845A>G	ENSP00000506251.1:n.9845A>G
ENST00000680887.1:c.9837A>G	ENSP00000505508.1:p.Leu3279=
ENST00000380152.7:c.9837A>G	ENSP00000369497.3:p.Leu3279=
ENST00000533776.1:n.425A>G
ENST00000544455.5:c.9837A>G	ENSP00000439902.1:p.Leu3279=
NM_000059.3:c.9837A>G , LRG_293t1:c.9837A>G	NP_000050.2:p.Leu3279=
XM_011535203.1:c.9837A>G	XP_011533505.1:p.Leu3279=
XM_011535204.1:c.9741A>G	XP_011533506.1:p.Leu3247=
NM_000059.4:c.9837A>G MANE Select	NP_000050.3:p.Leu3279=