Canonical Allele Identifier: CA10589532

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267123
• ClinVar RCV Id: RCV000257587 ; RCV000472639 ; RCV001018541
• dbSNP Id: rs80359146
• MyVariant Identifiers: chr13:g.32953650C>A (hg19) ; chr13:g.32379513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379513C>A , CM000675.2:g.32379513C>A	GRCh38
NC_000013.10:g.32953650C>A , CM000675.1:g.32953650C>A	GRCh37
NC_000013.9:g.31851650C>A	NCBI36
NG_012772.3:g.69034C>A , LRG_293:g.69034C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8951C>A	ENSP00000434898.2:p.Ser2984Ter
ENST00000528762.2:c.*318C>A	ENSP00000433168.2:n.*318C>A
ENST00000530893.7:c.8582C>A	ENSP00000499438.2:p.Ser2861Ter
ENST00000665585.2:c.*513C>A	ENSP00000499570.2:n.*513C>A
ENST00000666593.2:c.8951C>A	ENSP00000499256.2:p.Ser2984Ter
ENST00000700202.2:c.8951C>A	ENSP00000514856.2:p.Ser2984Ter
ENST00000700202.1:c.1418C>A	ENSP00000514856.1:p.Ser473Ter
ENST00000700203.1:n.1078C>A
ENST00000380152.8:c.8951C>A MANE Select	ENSP00000369497.3:p.Ser2984Ter
ENST00000544455.6:c.8951C>A	ENSP00000439902.1:p.Ser2984Ter
ENST00000614259.2:c.8959C>A	ENSP00000506251.1:n.8959C>A
ENST00000665585.1:c.1829C>A
ENST00000680887.1:c.8951C>A	ENSP00000505508.1:p.Ser2984Ter
ENST00000380152.7:c.8951C>A	ENSP00000369497.3:p.Ser2984Ter
ENST00000544455.5:c.8951C>A	ENSP00000439902.1:p.Ser2984Ter
NM_000059.3:c.8951C>A , LRG_293t1:c.8951C>A	NP_000050.2:p.Ser2984Ter
XM_011535203.1:c.8951C>A	XP_011533505.1:p.Ser2984Ter
XM_011535204.1:c.8855C>A	XP_011533506.1:p.Ser2952Ter
XM_011535205.1:c.8755-237C>A	XP_011533507.1:n.8755-237C>A
NM_000059.4:c.8951C>A MANE Select	NP_000050.3:p.Ser2984Ter