Canonical Allele Identifier: CA387767699

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 479287
• ClinVar RCV Id: RCV000561403
• dbSNP Id: rs1555290018
• MyVariant Identifiers: chr13:g.32972659A>G (hg19) ; chr13:g.32398522A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398522A>G , CM000675.2:g.32398522A>G	GRCh38
NC_000013.10:g.32972659A>G , CM000675.1:g.32972659A>G	GRCh37
NC_000013.9:g.31870659A>G	NCBI36
NG_012772.3:g.88043A>G , LRG_293:g.88043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*532A>G	ENSP00000434898.2:n.*532A>G
ENST00000528762.2:c.*1376A>G	ENSP00000433168.2:n.*1376A>G
ENST00000530893.7:c.9640A>G	ENSP00000499438.2:p.Asn3214Asp
ENST00000665585.2:c.*1571A>G	ENSP00000499570.2:n.*1571A>G
ENST00000700202.2:c.9958A>G	ENSP00000514856.2:p.Asn3320Asp
ENST00000700202.1:c.2425A>G	ENSP00000514856.1:p.Asn809Asp
ENST00000700203.1:n.2136A>G
ENST00000380152.8:c.10009A>G MANE Select	ENSP00000369497.3:p.Asn3337Asp
ENST00000544455.6:c.10009A>G	ENSP00000439902.1:p.Asn3337Asp
ENST00000614259.2:c.10017A>G	ENSP00000506251.1:n.10017A>G
ENST00000680887.1:c.10009A>G	ENSP00000505508.1:p.Asn3337Asp
ENST00000380152.7:c.10009A>G	ENSP00000369497.3:p.Asn3337Asp
ENST00000544455.5:c.10009A>G	ENSP00000439902.1:p.Asn3337Asp
NM_000059.3:c.10009A>G , LRG_293t1:c.10009A>G	NP_000050.2:p.Asn3337Asp
XM_011535203.1:c.10009A>G	XP_011533505.1:p.Asn3337Asp
XM_011535204.1:c.9913A>G	XP_011533506.1:p.Asn3305Asp
NM_000059.4:c.10009A>G MANE Select	NP_000050.3:p.Asn3337Asp