Canonical Allele Identifier: CA387766023

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1036408
• ClinVar RCV Id: RCV001339415
• dbSNP Id: rs587781543
• MyVariant Identifiers: chr13:g.32972443T>A (hg19) ; chr13:g.32398306T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398306T>A , CM000675.2:g.32398306T>A	GRCh38
NC_000013.10:g.32972443T>A , CM000675.1:g.32972443T>A	GRCh37
NC_000013.9:g.31870443T>A	NCBI36
NG_012772.3:g.87827T>A , LRG_293:g.87827T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*316T>A	ENSP00000434898.2:n.*316T>A
ENST00000528762.2:c.*1160T>A	ENSP00000433168.2:n.*1160T>A
ENST00000530893.7:c.9424T>A	ENSP00000499438.2:p.Cys3142Ser
ENST00000665585.2:c.*1355T>A	ENSP00000499570.2:n.*1355T>A
ENST00000700202.2:c.9742T>A	ENSP00000514856.2:p.Cys3248Ser
ENST00000700202.1:c.2209T>A	ENSP00000514856.1:p.Cys737Ser
ENST00000700203.1:n.1920T>A
ENST00000380152.8:c.9793T>A MANE Select	ENSP00000369497.3:p.Cys3265Ser
ENST00000544455.6:c.9793T>A	ENSP00000439902.1:p.Cys3265Ser
ENST00000614259.2:c.9801T>A	ENSP00000506251.1:n.9801T>A
ENST00000680887.1:c.9793T>A	ENSP00000505508.1:p.Cys3265Ser
ENST00000380152.7:c.9793T>A	ENSP00000369497.3:p.Cys3265Ser
ENST00000533776.1:n.381T>A
ENST00000544455.5:c.9793T>A	ENSP00000439902.1:p.Cys3265Ser
NM_000059.3:c.9793T>A , LRG_293t1:c.9793T>A	NP_000050.2:p.Cys3265Ser
XM_011535203.1:c.9793T>A	XP_011533505.1:p.Cys3265Ser
XM_011535204.1:c.9697T>A	XP_011533506.1:p.Cys3233Ser
NM_000059.4:c.9793T>A MANE Select	NP_000050.3:p.Cys3265Ser