Canonical Allele Identifier: CA10579852

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 229877
• ClinVar RCV Id: RCV000219856
• dbSNP Id: rs876658246
• COSMIC: COSM946886 ; COSM946887
• MyVariant Identifiers: chr13:g.32972645C>A (hg19) ; chr13:g.32398508C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398508C>A , CM000675.2:g.32398508C>A	GRCh38
NC_000013.10:g.32972645C>A , CM000675.1:g.32972645C>A	GRCh37
NC_000013.9:g.31870645C>A	NCBI36
NG_012772.3:g.88029C>A , LRG_293:g.88029C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*518C>A	ENSP00000434898.2:n.*518C>A
ENST00000528762.2:c.*1362C>A	ENSP00000433168.2:n.*1362C>A
ENST00000530893.7:c.9626C>A	ENSP00000499438.2:p.Ser3209Tyr
ENST00000665585.2:c.*1557C>A	ENSP00000499570.2:n.*1557C>A
ENST00000700202.2:c.9944C>A	ENSP00000514856.2:p.Ser3315Tyr
ENST00000700202.1:c.2411C>A	ENSP00000514856.1:p.Ser804Tyr
ENST00000700203.1:n.2122C>A
ENST00000380152.8:c.9995C>A MANE Select	ENSP00000369497.3:p.Ser3332Tyr
ENST00000544455.6:c.9995C>A	ENSP00000439902.1:p.Ser3332Tyr
ENST00000614259.2:c.10003C>A	ENSP00000506251.1:n.10003C>A
ENST00000680887.1:c.9995C>A	ENSP00000505508.1:p.Ser3332Tyr
ENST00000380152.7:c.9995C>A	ENSP00000369497.3:p.Ser3332Tyr
ENST00000544455.5:c.9995C>A	ENSP00000439902.1:p.Ser3332Tyr
NM_000059.3:c.9995C>A , LRG_293t1:c.9995C>A	NP_000050.2:p.Ser3332Tyr
XM_011535203.1:c.9995C>A	XP_011533505.1:p.Ser3332Tyr
XM_011535204.1:c.9899C>A	XP_011533506.1:p.Ser3300Tyr
NM_000059.4:c.9995C>A MANE Select	NP_000050.3:p.Ser3332Tyr