Canonical Allele Identifier: CA024527

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52215
• ClinVar RCV Id: RCV000113670 ; RCV000435351 ; RCV000566275 ; RCV001703947 ; RCV004537202 ; RCV001460409
• dbSNP Id: rs80358911
• gnomAD v4: 13-32344587-A-G
• MyVariant Identifiers: chr13:g.32918724A>G (hg19) ; chr13:g.32344587A>G (hg38)
• PubMed: PMID:24817641

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32344587A>G , CM000675.2:g.32344587A>G	GRCh38
NC_000013.10:g.32918724A>G , CM000675.1:g.32918724A>G	GRCh37
NC_000013.9:g.31816724A>G	NCBI36
NG_012772.3:g.34108A>G , LRG_293:g.34108A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6871A>G	ENSP00000434898.2:p.Asn2291Asp
ENST00000528762.2:c.6871A>G	ENSP00000433168.2:p.Asn2291Asp
ENST00000530893.7:c.6502A>G	ENSP00000499438.2:p.Asn2168Asp
ENST00000665585.2:c.6871A>G	ENSP00000499570.2:p.Asn2291Asp
ENST00000666593.2:c.6871A>G	ENSP00000499256.2:p.Asn2291Asp
ENST00000700202.2:c.6871A>G	ENSP00000514856.2:p.Asn2291Asp
ENST00000380152.8:c.6871A>G MANE Select	ENSP00000369497.3:p.Asn2291Asp
ENST00000544455.6:c.6871A>G	ENSP00000439902.1:p.Asn2291Asp
ENST00000614259.2:c.6871A>G	ENSP00000506251.1:p.Asn2291Asp
ENST00000680887.1:c.6871A>G	ENSP00000505508.1:p.Asn2291Asp
ENST00000380152.7:c.6871A>G	ENSP00000369497.3:p.Asn2291Asp
ENST00000544455.5:c.6871A>G	ENSP00000439902.1:p.Asn2291Asp
ENST00000614259.1:n.6871A>G
NM_000059.3:c.6871A>G , LRG_293t1:c.6871A>G	NP_000050.2:p.Asn2291Asp
XM_011535203.1:c.6871A>G	XP_011533505.1:p.Asn2291Asp
XM_011535204.1:c.6842-2240A>G	XP_011533506.1:n.6842-2240A>G
XM_011535205.1:c.6871A>G	XP_011533507.1:p.Asn2291Asp
NM_000059.4:c.6871A>G MANE Select	NP_000050.3:p.Asn2291Asp