Canonical Allele Identifier: CA025999

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 141254
• ClinVar RCV Id: RCV000129686 ; RCV000508531 ; RCV000702465 ; RCV001548512 ; RCV003460900
• dbSNP Id: rs587781606
• MyVariant Identifiers: chr13:g.32954145T>C (hg19) ; chr13:g.32380008T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380008T>C , CM000675.2:g.32380008T>C	GRCh38
NC_000013.10:g.32954145T>C , CM000675.1:g.32954145T>C	GRCh37
NC_000013.9:g.31852145T>C	NCBI36
NG_012772.3:g.69529T>C , LRG_293:g.69529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9119T>C	ENSP00000434898.2:p.Val3040Ala
ENST00000528762.2:c.*486T>C	ENSP00000433168.2:n.*486T>C
ENST00000530893.7:c.8750T>C	ENSP00000499438.2:p.Val2917Ala
ENST00000665585.2:c.*681T>C	ENSP00000499570.2:n.*681T>C
ENST00000666593.2:c.9119T>C	ENSP00000499256.2:p.Val3040Ala
ENST00000700202.2:c.9068T>C	ENSP00000514856.2:p.Val3023Ala
ENST00000700202.1:c.1535T>C	ENSP00000514856.1:p.Val512Ala
ENST00000700203.1:n.1246T>C
ENST00000380152.8:c.9119T>C MANE Select	ENSP00000369497.3:p.Val3040Ala
ENST00000544455.6:c.9119T>C	ENSP00000439902.1:p.Val3040Ala
ENST00000614259.2:c.9127T>C	ENSP00000506251.1:n.9127T>C
ENST00000665585.1:c.1997T>C
ENST00000666593.1:c.2T>C	ENSP00000499256.1:p.Val1Ala
ENST00000680887.1:c.9119T>C	ENSP00000505508.1:p.Val3040Ala
ENST00000380152.7:c.9119T>C	ENSP00000369497.3:p.Val3040Ala
ENST00000470094.1:c.76T>C
ENST00000544455.5:c.9119T>C	ENSP00000439902.1:p.Val3040Ala
NM_000059.3:c.9119T>C , LRG_293t1:c.9119T>C	NP_000050.2:p.Val3040Ala
XM_011535203.1:c.9119T>C	XP_011533505.1:p.Val3040Ala
XM_011535204.1:c.9023T>C	XP_011533506.1:p.Val3008Ala
NM_000059.4:c.9119T>C MANE Select	NP_000050.3:p.Val3040Ala