Canonical Allele Identifier: CA6941308

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462499
• ClinVar RCV Id: RCV000537861
• dbSNP Id: rs757088844
• ExAC: 13:32953578 A / G
• gnomAD v2: 13-32953578-A-G
• gnomAD v4: 13-32379441-A-G
• MyVariant Identifiers: chr13:g.32953578A>G (hg19) ; chr13:g.32379441A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379441A>G , CM000675.2:g.32379441A>G	GRCh38
NC_000013.10:g.32953578A>G , CM000675.1:g.32953578A>G	GRCh37
NC_000013.9:g.31851578A>G	NCBI36
NG_012772.3:g.68962A>G , LRG_293:g.68962A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8879A>G	ENSP00000434898.2:p.Gln2960Arg
ENST00000528762.2:c.*246A>G	ENSP00000433168.2:n.*246A>G
ENST00000530893.7:c.8510A>G	ENSP00000499438.2:p.Gln2837Arg
ENST00000665585.2:c.*441A>G	ENSP00000499570.2:n.*441A>G
ENST00000666593.2:c.8879A>G	ENSP00000499256.2:p.Gln2960Arg
ENST00000700202.2:c.8879A>G	ENSP00000514856.2:p.Gln2960Arg
ENST00000700202.1:c.1346A>G	ENSP00000514856.1:p.Gln449Arg
ENST00000700203.1:n.1006A>G
ENST00000380152.8:c.8879A>G MANE Select	ENSP00000369497.3:p.Gln2960Arg
ENST00000544455.6:c.8879A>G	ENSP00000439902.1:p.Gln2960Arg
ENST00000614259.2:c.8887A>G	ENSP00000506251.1:n.8887A>G
ENST00000665585.1:c.1757A>G
ENST00000680887.1:c.8879A>G	ENSP00000505508.1:p.Gln2960Arg
ENST00000380152.7:c.8879A>G	ENSP00000369497.3:p.Gln2960Arg
ENST00000528762.1:c.441A>G	ENSP00000433168.1:n.441A>G
ENST00000544455.5:c.8879A>G	ENSP00000439902.1:p.Gln2960Arg
NM_000059.3:c.8879A>G , LRG_293t1:c.8879A>G	NP_000050.2:p.Gln2960Arg
XM_011535203.1:c.8879A>G	XP_011533505.1:p.Gln2960Arg
XM_011535204.1:c.8783A>G	XP_011533506.1:p.Gln2928Arg
XM_011535205.1:c.8755-309A>G	XP_011533507.1:n.8755-309A>G
NM_000059.4:c.8879A>G MANE Select	NP_000050.3:p.Gln2960Arg