Canonical Allele Identifier: CA387757409

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1417642
• ClinVar RCV Id: RCV001938527
• dbSNP Id: rs2137622236
• MyVariant Identifiers: chr13:g.32953916G>A (hg19) ; chr13:g.32379779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379779G>A , CM000675.2:g.32379779G>A	GRCh38
NC_000013.10:g.32953916G>A , CM000675.1:g.32953916G>A	GRCh37
NC_000013.9:g.31851916G>A	NCBI36
NG_012772.3:g.69300G>A , LRG_293:g.69300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8983G>A	ENSP00000434898.2:p.Asp2995Asn
ENST00000528762.2:c.*350G>A	ENSP00000433168.2:n.*350G>A
ENST00000530893.7:c.8614G>A	ENSP00000499438.2:p.Asp2872Asn
ENST00000665585.2:c.*545G>A	ENSP00000499570.2:n.*545G>A
ENST00000666593.2:c.8983G>A	ENSP00000499256.2:p.Asp2995Asn
ENST00000700202.2:c.8954-22G>A	ENSP00000514856.2:n.8954-22G>A
ENST00000700202.1:c.1421-22G>A	ENSP00000514856.1:n.1421-22G>A
ENST00000700203.1:n.1110G>A
ENST00000380152.8:c.8983G>A MANE Select	ENSP00000369497.3:p.Asp2995Asn
ENST00000544455.6:c.8983G>A	ENSP00000439902.1:p.Asp2995Asn
ENST00000614259.2:c.8991G>A	ENSP00000506251.1:n.8991G>A
ENST00000665585.1:c.1861G>A
ENST00000680887.1:c.8983G>A	ENSP00000505508.1:p.Asp2995Asn
ENST00000380152.7:c.8983G>A	ENSP00000369497.3:p.Asp2995Asn
ENST00000544455.5:c.8983G>A	ENSP00000439902.1:p.Asp2995Asn
NM_000059.3:c.8983G>A , LRG_293t1:c.8983G>A	NP_000050.2:p.Asp2995Asn
XM_011535203.1:c.8983G>A	XP_011533505.1:p.Asp2995Asn
XM_011535204.1:c.8887G>A	XP_011533506.1:p.Asp2963Asn
XM_011535205.1:c.*21G>A	XP_011533507.1:n.*21G>A
NM_000059.4:c.8983G>A MANE Select	NP_000050.3:p.Asp2995Asn