Canonical Allele Identifier: CA010254

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51042
• ClinVar RCV Id: RCV000112840 ; RCV000429325 ; RCV001852914
• dbSNP Id: rs80358392
• MyVariant Identifiers: chr13:g.32972755A>G (hg19) ; chr13:g.32398618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398618A>G , CM000675.2:g.32398618A>G	GRCh38
NC_000013.10:g.32972755A>G , CM000675.1:g.32972755A>G	GRCh37
NC_000013.9:g.31870755A>G	NCBI36
NG_012772.3:g.88139A>G , LRG_293:g.88139A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*628A>G	ENSP00000434898.2:n.*628A>G
ENST00000528762.2:c.*1472A>G	ENSP00000433168.2:n.*1472A>G
ENST00000530893.7:c.9736A>G	ENSP00000499438.2:p.Thr3246Ala
ENST00000665585.2:c.*1667A>G	ENSP00000499570.2:n.*1667A>G
ENST00000700202.2:c.10054A>G	ENSP00000514856.2:p.Thr3352Ala
ENST00000700202.1:c.2521A>G	ENSP00000514856.1:p.Thr841Ala
ENST00000700203.1:n.2232A>G
ENST00000380152.8:c.10105A>G MANE Select	ENSP00000369497.3:p.Thr3369Ala
ENST00000544455.6:c.10105A>G	ENSP00000439902.1:p.Thr3369Ala
ENST00000614259.2:c.10113A>G	ENSP00000506251.1:n.10113A>G
ENST00000680887.1:c.10105A>G	ENSP00000505508.1:p.Thr3369Ala
ENST00000380152.7:c.10105A>G	ENSP00000369497.3:p.Thr3369Ala
ENST00000544455.5:c.10105A>G	ENSP00000439902.1:p.Thr3369Ala
NM_000059.3:c.10105A>G , LRG_293t1:c.10105A>G	NP_000050.2:p.Thr3369Ala
XM_011535203.1:c.10105A>G	XP_011533505.1:p.Thr3369Ala
XM_011535204.1:c.10009A>G	XP_011533506.1:p.Thr3337Ala
NM_000059.4:c.10105A>G MANE Select	NP_000050.3:p.Thr3369Ala