Canonical Allele Identifier: CA025751

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38173
• ClinVar RCV Id: RCV000031756 ; RCV000122935 ; RCV000132191 ; RCV000442944 ; RCV001353567 ; RCV003237417
• dbSNP Id: rs397507407
• gnomAD v2: 13-32950803-T-A
• gnomAD v4: 13-32376666-T-A
• MyVariant Identifiers: chr13:g.32950803T>A (hg19) ; chr13:g.32376666T>A (hg38)
• PubMed: PMID:21120943

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376666T>A , CM000675.2:g.32376666T>A	GRCh38
NC_000013.10:g.32950803T>A , CM000675.1:g.32950803T>A	GRCh37
NC_000013.9:g.31848803T>A	NCBI36
NG_012772.3:g.66187T>A , LRG_293:g.66187T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8633-4T>A	ENSP00000434898.2:n.8633-4T>A
ENST00000528762.2:c.8697-4T>A	ENSP00000433168.2:n.8697-4T>A
ENST00000530893.7:c.8264-4T>A	ENSP00000499438.2:n.8264-4T>A
ENST00000665585.2:c.*195-4T>A	ENSP00000499570.2:n.*195-4T>A
ENST00000666593.2:c.8633-4T>A	ENSP00000499256.2:n.8633-4T>A
ENST00000700202.2:c.8633-4T>A	ENSP00000514856.2:n.8633-4T>A
ENST00000700202.1:c.1100-4T>A	ENSP00000514856.1:n.1100-4T>A
ENST00000700203.1:n.756T>A
ENST00000380152.8:c.8633-4T>A MANE Select	ENSP00000369497.3:n.8633-4T>A
ENST00000544455.6:c.8633-4T>A	ENSP00000439902.1:n.8633-4T>A
ENST00000614259.2:c.8641-4T>A	ENSP00000506251.1:n.8641-4T>A
ENST00000665585.1:c.1511-4T>A
ENST00000680887.1:c.8633-4T>A	ENSP00000505508.1:n.8633-4T>A
ENST00000380152.7:c.8633-4T>A	ENSP00000369497.3:n.8633-4T>A
ENST00000528762.1:c.195-4T>A	ENSP00000433168.1:n.195-4T>A
ENST00000544455.5:c.8633-4T>A	ENSP00000439902.1:n.8633-4T>A
NM_000059.3:c.8633-4T>A , LRG_293t1:c.8633-4T>A	NP_000050.2:n.8633-4T>A
XM_011535203.1:c.8633-4T>A	XP_011533505.1:n.8633-4T>A
XM_011535204.1:c.8537-4T>A	XP_011533506.1:n.8537-4T>A
XM_011535205.1:c.8633-4T>A	XP_011533507.1:n.8633-4T>A
NM_000059.4:c.8633-4T>A MANE Select	NP_000050.3:n.8633-4T>A