Canonical Allele Identifier: CA025807

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38182
• ClinVar RCV Id: RCV000031765 ; RCV000571571 ; RCV001573455 ; RCV001852628
• dbSNP Id: rs81002813
• gnomAD v4: 13-32376796-G-A
• MyVariant Identifiers: chr13:g.32950933G>A (hg19) ; chr13:g.32376796G>A (hg38)
• PubMed: PMID:18693280 ; PMID:21638052 ; PMID:25146914 ; PMID:25382762 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376796G>A , CM000675.2:g.32376796G>A	GRCh38
NC_000013.10:g.32950933G>A , CM000675.1:g.32950933G>A	GRCh37
NC_000013.9:g.31848933G>A	NCBI36
NG_012772.3:g.66317G>A , LRG_293:g.66317G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8754+5G>A	ENSP00000434898.2:n.8754+5G>A
ENST00000528762.2:c.*121+5G>A	ENSP00000433168.2:n.*121+5G>A
ENST00000530893.7:c.8385+5G>A	ENSP00000499438.2:n.8385+5G>A
ENST00000665585.2:c.*316+5G>A	ENSP00000499570.2:n.*316+5G>A
ENST00000666593.2:c.8754+5G>A	ENSP00000499256.2:n.8754+5G>A
ENST00000700202.2:c.8754+5G>A	ENSP00000514856.2:n.8754+5G>A
ENST00000700202.1:c.1221+5G>A	ENSP00000514856.1:n.1221+5G>A
ENST00000700203.1:n.881+5G>A
ENST00000380152.8:c.8754+5G>A MANE Select	ENSP00000369497.3:n.8754+5G>A
ENST00000544455.6:c.8754+5G>A	ENSP00000439902.1:n.8754+5G>A
ENST00000614259.2:c.8762+5G>A	ENSP00000506251.1:n.8762+5G>A
ENST00000665585.1:c.1632+5G>A
ENST00000680887.1:c.8754+5G>A	ENSP00000505508.1:n.8754+5G>A
ENST00000380152.7:c.8754+5G>A	ENSP00000369497.3:n.8754+5G>A
ENST00000528762.1:c.316+5G>A	ENSP00000433168.1:n.316+5G>A
ENST00000544455.5:c.8754+5G>A	ENSP00000439902.1:n.8754+5G>A
NM_000059.3:c.8754+5G>A , LRG_293t1:c.8754+5G>A	NP_000050.2:n.8754+5G>A
XM_011535203.1:c.8754+5G>A	XP_011533505.1:n.8754+5G>A
XM_011535204.1:c.8658+5G>A	XP_011533506.1:n.8658+5G>A
XM_011535205.1:c.8754+5G>A	XP_011533507.1:n.8754+5G>A
NM_000059.4:c.8754+5G>A MANE Select	NP_000050.3:n.8754+5G>A