Canonical Allele Identifier: CA1139663196

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 934858
• ClinVar RCV Id: RCV001203334
• dbSNP Id: rs2072908049

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379778dup , CM000675.2:g.32379778dup	GRCh38
NC_000013.10:g.32953915dup , CM000675.1:g.32953915dup	GRCh37
NC_000013.9:g.31851915dup	NCBI36
NG_012772.3:g.69299dup , LRG_293:g.69299dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8982dup	ENSP00000434898.2:p.Asp2995ArgfsTer23
ENST00000528762.2:c.*349dup	ENSP00000433168.2:n.*349dup
ENST00000530893.7:c.8613dup	ENSP00000499438.2:p.Asp2872ArgfsTer23
ENST00000665585.2:c.*544dup	ENSP00000499570.2:n.*544dup
ENST00000666593.2:c.8982dup	ENSP00000499256.2:p.Asp2995ArgfsTer23
ENST00000700202.2:c.8954-23dup	ENSP00000514856.2:n.8954-23dup
ENST00000700202.1:c.1421-23dup	ENSP00000514856.1:n.1421-23dup
ENST00000700203.1:n.1109dup
ENST00000380152.8:c.8982dup MANE Select	ENSP00000369497.3:p.Asp2995ArgfsTer23
ENST00000544455.6:c.8982dup	ENSP00000439902.1:p.Asp2995ArgfsTer23
ENST00000614259.2:c.8990dup	ENSP00000506251.1:n.8990dup
ENST00000665585.1:c.1860dup
ENST00000680887.1:c.8982dup	ENSP00000505508.1:p.Asp2995ArgfsTer23
ENST00000380152.7:c.8982dup	ENSP00000369497.3:p.Asp2995ArgfsTer23
ENST00000544455.5:c.8982dup	ENSP00000439902.1:p.Asp2995ArgfsTer23
NM_000059.3:c.8982dup , LRG_293t1:c.8982dup	NP_000050.2:p.Asp2995ArgfsTer23
XM_011535203.1:c.8982dup	XP_011533505.1:p.Asp2995ArgfsTer23
XM_011535204.1:c.8886dup	XP_011533506.1:p.Asp2963ArgfsTer23
XM_011535205.1:c.*20dup	XP_011533507.1:n.*20dup
NM_000059.4:c.8982dup MANE Select	NP_000050.3:p.Asp2995ArgfsTer23