Canonical Allele Identifier: CA483439805

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 928574
• ClinVar RCV Id: RCV001192688
• dbSNP Id: rs2072907140
• MyVariant Identifiers: chr13:g.32953888T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379751T>C , CM000675.2:g.32379751T>C	GRCh38
NC_000013.10:g.32953888T>C , CM000675.1:g.32953888T>C	GRCh37
NC_000013.9:g.31851888T>C	NCBI36
NG_012772.3:g.69272T>C , LRG_293:g.69272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8955T>C	ENSP00000434898.2:p.Val2985=
ENST00000528762.2:c.*322T>C	ENSP00000433168.2:n.*322T>C
ENST00000530893.7:c.8586T>C	ENSP00000499438.2:p.Val2862=
ENST00000665585.2:c.*517T>C	ENSP00000499570.2:n.*517T>C
ENST00000666593.2:c.8955T>C	ENSP00000499256.2:p.Val2985=
ENST00000700202.2:c.8954-50T>C	ENSP00000514856.2:n.8954-50T>C
ENST00000700202.1:c.1421-50T>C	ENSP00000514856.1:n.1421-50T>C
ENST00000700203.1:n.1082T>C
ENST00000380152.8:c.8955T>C MANE Select	ENSP00000369497.3:p.Val2985=
ENST00000544455.6:c.8955T>C	ENSP00000439902.1:p.Val2985=
ENST00000614259.2:c.8963T>C	ENSP00000506251.1:n.8963T>C
ENST00000665585.1:c.1833T>C
ENST00000680887.1:c.8955T>C	ENSP00000505508.1:p.Val2985=
ENST00000380152.7:c.8955T>C	ENSP00000369497.3:p.Val2985=
ENST00000544455.5:c.8955T>C	ENSP00000439902.1:p.Val2985=
NM_000059.3:c.8955T>C , LRG_293t1:c.8955T>C	NP_000050.2:p.Val2985=
XM_011535203.1:c.8955T>C	XP_011533505.1:p.Val2985=
XM_011535204.1:c.8859T>C	XP_011533506.1:p.Val2953=
XM_011535205.1:c.8756T>C	XP_011533507.1:p.Leu2919Ser
NM_000059.4:c.8955T>C MANE Select	NP_000050.3:p.Val2985=