Canonical Allele Identifier: CA025717

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52625
• ClinVar RCV Id: RCV000045562 ; RCV000131683 ; RCV000113963 ; RCV000656806 ; RCV001192535 ; RCV001798241
• dbSNP Id: rs80359114
• ExAC: 13:32945178 A / G
• gnomAD v2: 13-32945178-A-G
• gnomAD v3: 13-32371041-A-G
• gnomAD v4: 13-32371041-A-G
• MyVariant Identifiers: chr13:g.32945178A>G (hg19) ; chr13:g.32371041A>G (hg38)
• PubMed: PMID:10923033 ; PMID:16905680 ; PMID:18375895 ; PMID:21990134 ; PMID:21990165 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371041A>G , CM000675.2:g.32371041A>G	GRCh38
NC_000013.10:g.32945178A>G , CM000675.1:g.32945178A>G	GRCh37
NC_000013.9:g.31843178A>G	NCBI36
NG_012772.3:g.60562A>G , LRG_293:g.60562A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8573A>G	ENSP00000434898.2:p.Gln2858Arg
ENST00000528762.2:c.8573A>G	ENSP00000433168.2:p.Gln2858Arg
ENST00000530893.7:c.8204A>G	ENSP00000499438.2:p.Gln2735Arg
ENST00000665585.2:c.8573A>G	ENSP00000499570.2:p.Gln2858Arg
ENST00000666593.2:c.8573A>G	ENSP00000499256.2:p.Gln2858Arg
ENST00000700202.2:c.8573A>G	ENSP00000514856.2:p.Gln2858Arg
ENST00000700202.1:c.1040A>G	ENSP00000514856.1:p.Gln347Arg
ENST00000380152.8:c.8573A>G MANE Select	ENSP00000369497.3:p.Gln2858Arg
ENST00000544455.6:c.8573A>G	ENSP00000439902.1:p.Gln2858Arg
ENST00000614259.2:c.8581A>G	ENSP00000506251.1:n.8581A>G
ENST00000665585.1:c.1138A>G
ENST00000680887.1:c.8573A>G	ENSP00000505508.1:p.Gln2858Arg
ENST00000380152.7:c.8573A>G	ENSP00000369497.3:p.Gln2858Arg
ENST00000528762.1:c.71A>G	ENSP00000433168.1:p.Gln24Arg
ENST00000544455.5:c.8573A>G	ENSP00000439902.1:p.Gln2858Arg
NM_000059.3:c.8573A>G , LRG_293t1:c.8573A>G	NP_000050.2:p.Gln2858Arg
XM_011535203.1:c.8573A>G	XP_011533505.1:p.Gln2858Arg
XM_011535204.1:c.8477A>G	XP_011533506.1:p.Gln2826Arg
XM_011535205.1:c.8573A>G	XP_011533507.1:p.Gln2858Arg
NM_000059.4:c.8573A>G MANE Select	NP_000050.3:p.Gln2858Arg