Canonical Allele Identifier: CA387765122

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 531385
• ClinVar RCV Id: RCV001584470 ; RCV002377384
• dbSNP Id: rs1476681505
• gnomAD v2: 13-32972312-A-C
• gnomAD v4: 13-32398175-A-C
• MyVariant Identifiers: chr13:g.32972312A>C (hg19) ; chr13:g.32398175A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398175A>C , CM000675.2:g.32398175A>C	GRCh38
NC_000013.10:g.32972312A>C , CM000675.1:g.32972312A>C	GRCh37
NC_000013.9:g.31870312A>C	NCBI36
NG_012772.3:g.87696A>C , LRG_293:g.87696A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*185A>C	ENSP00000434898.2:n.*185A>C
ENST00000528762.2:c.*1029A>C	ENSP00000433168.2:n.*1029A>C
ENST00000530893.7:c.9293A>C	ENSP00000499438.2:p.Asn3098Thr
ENST00000665585.2:c.*1224A>C	ENSP00000499570.2:n.*1224A>C
ENST00000700202.2:c.9611A>C	ENSP00000514856.2:p.Asn3204Thr
ENST00000700202.1:c.2078A>C	ENSP00000514856.1:p.Asn693Thr
ENST00000700203.1:n.1789A>C
ENST00000380152.8:c.9662A>C MANE Select	ENSP00000369497.3:p.Asn3221Thr
ENST00000544455.6:c.9662A>C	ENSP00000439902.1:p.Asn3221Thr
ENST00000614259.2:c.9670A>C	ENSP00000506251.1:n.9670A>C
ENST00000665585.1:c.2540A>C
ENST00000680887.1:c.9662A>C	ENSP00000505508.1:p.Asn3221Thr
ENST00000380152.7:c.9662A>C	ENSP00000369497.3:p.Asn3221Thr
ENST00000470094.1:c.745A>C
ENST00000533776.1:n.250A>C
ENST00000544455.5:c.9662A>C	ENSP00000439902.1:p.Asn3221Thr
NM_000059.3:c.9662A>C , LRG_293t1:c.9662A>C	NP_000050.2:p.Asn3221Thr
XM_011535203.1:c.9662A>C	XP_011533505.1:p.Asn3221Thr
XM_011535204.1:c.9566A>C	XP_011533506.1:p.Asn3189Thr
NM_000059.4:c.9662A>C MANE Select	NP_000050.3:p.Asn3221Thr