Canonical Allele Identifier: CA025483

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52516
• ClinVar RCV Id: RCV000045437 ; RCV000113879 ; RCV000200976 ; RCV000218818
• dbSNP Id: rs41293513
• ExAC: 13:32937507 A / C
• gnomAD v2: 13-32937507-A-C
• gnomAD v4: 13-32363370-A-C
• MyVariant Identifiers: chr13:g.32937507A>C (hg19) ; chr13:g.32363370A>C (hg38)
• ERepo: CA025483/MONDO:0012933/097 ; CA025483/MONDO:0700269/097
• PubMed: PMID:12601471 ; PMID:19043619

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363370A>C , CM000675.2:g.32363370A>C	GRCh38
NC_000013.10:g.32937507A>C , CM000675.1:g.32937507A>C	GRCh37
NC_000013.9:g.31835507A>C	NCBI36
NG_012772.3:g.52891A>C , LRG_293:g.52891A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8168A>C	ENSP00000434898.2:p.Asp2723Ala
ENST00000528762.2:c.8168A>C	ENSP00000433168.2:p.Asp2723Ala
ENST00000530893.7:c.7799A>C	ENSP00000499438.2:p.Asp2600Ala
ENST00000665585.2:c.8168A>C	ENSP00000499570.2:p.Asp2723Ala
ENST00000666593.2:c.8168A>C	ENSP00000499256.2:p.Asp2723Ala
ENST00000700202.2:c.8168A>C	ENSP00000514856.2:p.Asp2723Ala
ENST00000700202.1:c.635A>C	ENSP00000514856.1:p.Asp212Ala
ENST00000380152.8:c.8168A>C MANE Select	ENSP00000369497.3:p.Asp2723Ala
ENST00000544455.6:c.8168A>C	ENSP00000439902.1:p.Asp2723Ala
ENST00000614259.2:c.8176A>C	ENSP00000506251.1:n.8176A>C
ENST00000665585.1:c.733A>C
ENST00000680887.1:c.8168A>C	ENSP00000505508.1:p.Asp2723Ala
ENST00000380152.7:c.8168A>C	ENSP00000369497.3:p.Asp2723Ala
ENST00000544455.5:c.8168A>C	ENSP00000439902.1:p.Asp2723Ala
NM_000059.3:c.8168A>C , LRG_293t1:c.8168A>C	NP_000050.2:p.Asp2723Ala
XM_011535203.1:c.8168A>C	XP_011533505.1:p.Asp2723Ala
XM_011535204.1:c.8072A>C	XP_011533506.1:p.Asp2691Ala
XM_011535205.1:c.8168A>C	XP_011533507.1:p.Asp2723Ala
NM_000059.4:c.8168A>C MANE Select	NP_000050.3:p.Asp2723Ala