Canonical Allele Identifier: CA10579861

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 232876
• ClinVar RCV Id: RCV000220269 ; RCV000231576
• dbSNP Id: rs876660044
• MyVariant Identifiers: chr13:g.32972839T>A (hg19) ; chr13:g.32398702T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398702T>A , CM000675.2:g.32398702T>A	GRCh38
NC_000013.10:g.32972839T>A , CM000675.1:g.32972839T>A	GRCh37
NC_000013.9:g.31870839T>A	NCBI36
NG_012772.3:g.88223T>A , LRG_293:g.88223T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*712T>A	ENSP00000434898.2:n.*712T>A
ENST00000528762.2:c.*1556T>A	ENSP00000433168.2:n.*1556T>A
ENST00000530893.7:c.9820T>A	ENSP00000499438.2:p.Ser3274Thr
ENST00000665585.2:c.*1751T>A	ENSP00000499570.2:n.*1751T>A
ENST00000700202.2:c.10138T>A	ENSP00000514856.2:p.Ser3380Thr
ENST00000700202.1:c.2605T>A	ENSP00000514856.1:p.Ser869Thr
ENST00000700203.1:n.2316T>A
ENST00000380152.8:c.10189T>A MANE Select	ENSP00000369497.3:p.Ser3397Thr
ENST00000544455.6:c.10189T>A	ENSP00000439902.1:p.Ser3397Thr
ENST00000614259.2:c.10197T>A	ENSP00000506251.1:n.10197T>A
ENST00000680887.1:c.10189T>A	ENSP00000505508.1:p.Ser3397Thr
ENST00000380152.7:c.10189T>A	ENSP00000369497.3:p.Ser3397Thr
ENST00000544455.5:c.10189T>A	ENSP00000439902.1:p.Ser3397Thr
NM_000059.3:c.10189T>A , LRG_293t1:c.10189T>A	NP_000050.2:p.Ser3397Thr
XM_011535203.1:c.10189T>A	XP_011533505.1:p.Ser3397Thr
XM_011535204.1:c.10093T>A	XP_011533506.1:p.Ser3365Thr
NM_000059.4:c.10189T>A MANE Select	NP_000050.3:p.Ser3397Thr