Canonical Allele Identifier: CA387766019

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 489801
• ClinVar RCV Id: RCV000580455
• dbSNP Id: rs587781543
• MyVariant Identifiers: chr13:g.32972443T>G (hg19) ; chr13:g.32398306T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*316T>G	ENSP00000434898.2:n.*316T>G
ENST00000528762.2:c.*1160T>G	ENSP00000433168.2:n.*1160T>G
ENST00000530893.7:c.9424T>G	ENSP00000499438.2:p.Cys3142Gly
ENST00000665585.2:c.*1355T>G	ENSP00000499570.2:n.*1355T>G
ENST00000700202.2:c.9742T>G	ENSP00000514856.2:p.Cys3248Gly
ENST00000700202.1:c.2209T>G	ENSP00000514856.1:p.Cys737Gly
ENST00000700203.1:n.1920T>G
ENST00000380152.8:c.9793T>G MANE Select	ENSP00000369497.3:p.Cys3265Gly
ENST00000544455.6:c.9793T>G	ENSP00000439902.1:p.Cys3265Gly
ENST00000614259.2:c.9801T>G	ENSP00000506251.1:n.9801T>G
ENST00000680887.1:c.9793T>G	ENSP00000505508.1:p.Cys3265Gly
ENST00000380152.7:c.9793T>G	ENSP00000369497.3:p.Cys3265Gly
ENST00000533776.1:n.381T>G
ENST00000544455.5:c.9793T>G	ENSP00000439902.1:p.Cys3265Gly
NM_000059.3:c.9793T>G , LRG_293t1:c.9793T>G	NP_000050.2:p.Cys3265Gly
XM_011535203.1:c.9793T>G	XP_011533505.1:p.Cys3265Gly
XM_011535204.1:c.9697T>G	XP_011533506.1:p.Cys3233Gly
NM_000059.4:c.9793T>G MANE Select	NP_000050.3:p.Cys3265Gly