Canonical Allele Identifier: CA020789

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 37922
• ClinVar RCV Id: RCV000031503 ; RCV000772115 ; RCV003529925
• dbSNP Id: rs397507340
• COSMIC: COSM1577245
• MyVariant Identifiers: chr13:g.32900378G>A (hg19) ; chr13:g.32326241G>A (hg38)
• PubMed: PMID:22666503

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326241G>A , CM000675.2:g.32326241G>A	GRCh38
NC_000013.10:g.32900378G>A , CM000675.1:g.32900378G>A	GRCh37
NC_000013.9:g.31798378G>A	NCBI36
NG_012772.3:g.15762G>A , LRG_293:g.15762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.476-1G>A	ENSP00000434898.2:n.476-1G>A
ENST00000528762.2:c.476-1G>A	ENSP00000433168.2:n.476-1G>A
ENST00000530893.7:c.107-1G>A	ENSP00000499438.2:n.107-1G>A
ENST00000665585.2:c.476-1G>A	ENSP00000499570.2:n.476-1G>A
ENST00000666593.2:c.476-1G>A	ENSP00000499256.2:n.476-1G>A
ENST00000700202.2:c.476-1G>A	ENSP00000514856.2:n.476-1G>A
ENST00000700200.1:n.347-1G>A
ENST00000700201.1:c.*255-1G>A	ENSP00000514855.1:n.*255-1G>A
ENST00000380152.8:c.476-1G>A MANE Select	ENSP00000369497.3:n.476-1G>A
ENST00000544455.6:c.476-1G>A	ENSP00000439902.1:n.476-1G>A
ENST00000614259.2:c.476-1G>A	ENSP00000506251.1:n.476-1G>A
ENST00000680887.1:c.476-1G>A	ENSP00000505508.1:n.476-1G>A
ENST00000380152.7:c.476-1G>A	ENSP00000369497.3:n.476-1G>A
ENST00000530893.6:n.674-1G>A
ENST00000544455.5:c.476-1G>A	ENSP00000439902.1:n.476-1G>A
ENST00000614259.1:n.476-1G>A
NM_000059.3:c.476-1G>A , LRG_293t1:c.476-1G>A	NP_000050.2:n.476-1G>A
XM_011535203.1:c.476-1G>A	XP_011533505.1:n.476-1G>A
XM_011535204.1:c.476-1G>A	XP_011533506.1:n.476-1G>A
XM_011535205.1:c.476-1G>A	XP_011533507.1:n.476-1G>A
NM_000059.4:c.476-1G>A MANE Select	NP_000050.3:n.476-1G>A