Canonical Allele Identifier: CA387760817

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1330142
• ClinVar RCV Id: RCV001801159
• dbSNP Id: rs1060502443
• MyVariant Identifiers: chr13:g.32968853A>C (hg19) ; chr13:g.32394716A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394716A>C , CM000675.2:g.32394716A>C	GRCh38
NC_000013.10:g.32968853A>C , CM000675.1:g.32968853A>C	GRCh37
NC_000013.9:g.31866853A>C	NCBI36
NG_012772.3:g.84237A>C , LRG_293:g.84237A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9284A>C	ENSP00000434898.2:p.Asp3095Ala
ENST00000528762.2:c.*651A>C	ENSP00000433168.2:n.*651A>C
ENST00000530893.7:c.8915A>C	ENSP00000499438.2:p.Asp2972Ala
ENST00000665585.2:c.*846A>C	ENSP00000499570.2:n.*846A>C
ENST00000666593.2:c.*129A>C	ENSP00000499256.2:n.*129A>C
ENST00000700202.2:c.9233A>C	ENSP00000514856.2:p.Asp3078Ala
ENST00000700202.1:c.1700A>C	ENSP00000514856.1:p.Asp567Ala
ENST00000700203.1:n.1411A>C
ENST00000380152.8:c.9284A>C MANE Select	ENSP00000369497.3:p.Asp3095Ala
ENST00000544455.6:c.9284A>C	ENSP00000439902.1:p.Asp3095Ala
ENST00000614259.2:c.9292A>C	ENSP00000506251.1:n.9292A>C
ENST00000665585.1:c.2162A>C
ENST00000666593.1:c.306A>C	ENSP00000499256.1:n.306A>C
ENST00000680887.1:c.9284A>C	ENSP00000505508.1:p.Asp3095Ala
ENST00000380152.7:c.9284A>C	ENSP00000369497.3:p.Asp3095Ala
ENST00000470094.1:c.241A>C
ENST00000544455.5:c.9284A>C	ENSP00000439902.1:p.Asp3095Ala
NM_000059.3:c.9284A>C , LRG_293t1:c.9284A>C	NP_000050.2:p.Asp3095Ala
XM_011535203.1:c.9284A>C	XP_011533505.1:p.Asp3095Ala
XM_011535204.1:c.9188A>C	XP_011533506.1:p.Asp3063Ala
NM_000059.4:c.9284A>C MANE Select	NP_000050.3:p.Asp3095Ala