Canonical Allele Identifier: CA6941306

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 863769
• ClinVar RCV Id: RCV001070819 ; RCV002374998 ; RCV001800954
• dbSNP Id: rs763943647
• ExAC: 13:32953569 A / G
• gnomAD v2: 13-32953569-A-G
• MyVariant Identifiers: chr13:g.32953569A>G (hg19) ; chr13:g.32379432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379432A>G , CM000675.2:g.32379432A>G	GRCh38
NC_000013.10:g.32953569A>G , CM000675.1:g.32953569A>G	GRCh37
NC_000013.9:g.31851569A>G	NCBI36
NG_012772.3:g.68953A>G , LRG_293:g.68953A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8870A>G	ENSP00000434898.2:p.Gln2957Arg
ENST00000528762.2:c.*237A>G	ENSP00000433168.2:n.*237A>G
ENST00000530893.7:c.8501A>G	ENSP00000499438.2:p.Gln2834Arg
ENST00000665585.2:c.*432A>G	ENSP00000499570.2:n.*432A>G
ENST00000666593.2:c.8870A>G	ENSP00000499256.2:p.Gln2957Arg
ENST00000700202.2:c.8870A>G	ENSP00000514856.2:p.Gln2957Arg
ENST00000700202.1:c.1337A>G	ENSP00000514856.1:p.Gln446Arg
ENST00000700203.1:n.997A>G
ENST00000380152.8:c.8870A>G MANE Select	ENSP00000369497.3:p.Gln2957Arg
ENST00000544455.6:c.8870A>G	ENSP00000439902.1:p.Gln2957Arg
ENST00000614259.2:c.8878A>G	ENSP00000506251.1:n.8878A>G
ENST00000665585.1:c.1748A>G
ENST00000680887.1:c.8870A>G	ENSP00000505508.1:p.Gln2957Arg
ENST00000380152.7:c.8870A>G	ENSP00000369497.3:p.Gln2957Arg
ENST00000528762.1:c.432A>G	ENSP00000433168.1:n.432A>G
ENST00000544455.5:c.8870A>G	ENSP00000439902.1:p.Gln2957Arg
NM_000059.3:c.8870A>G , LRG_293t1:c.8870A>G	NP_000050.2:p.Gln2957Arg
XM_011535203.1:c.8870A>G	XP_011533505.1:p.Gln2957Arg
XM_011535204.1:c.8774A>G	XP_011533506.1:p.Gln2925Arg
XM_011535205.1:c.8755-318A>G	XP_011533507.1:n.8755-318A>G
NM_000059.4:c.8870A>G MANE Select	NP_000050.3:p.Gln2957Arg