Canonical Allele Identifier: CA026206

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52867
• ClinVar RCV Id: RCV003473435
• dbSNP Id: rs80359225
• gnomAD v4: 13-32396938-T-G
• MyVariant Identifiers: chr13:g.32971075T>G (hg19) ; chr13:g.32396938T>G (hg38)
• PubMed: PMID:10923033 ; PMID:19043619

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396938T>G , CM000675.2:g.32396938T>G	GRCh38
NC_000013.10:g.32971075T>G , CM000675.1:g.32971075T>G	GRCh37
NC_000013.9:g.31869075T>G	NCBI36
NG_012772.3:g.86459T>G , LRG_293:g.86459T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*65T>G	ENSP00000434898.2:n.*65T>G
ENST00000528762.2:c.*909T>G	ENSP00000433168.2:n.*909T>G
ENST00000530893.7:c.9173T>G	ENSP00000499438.2:p.Met3058Arg
ENST00000665585.2:c.*1104T>G	ENSP00000499570.2:n.*1104T>G
ENST00000700202.2:c.9491T>G	ENSP00000514856.2:p.Met3164Arg
ENST00000700202.1:c.1958T>G	ENSP00000514856.1:p.Met653Arg
ENST00000700203.1:n.1669T>G
ENST00000380152.8:c.9542T>G MANE Select	ENSP00000369497.3:p.Met3181Arg
ENST00000544455.6:c.9542T>G	ENSP00000439902.1:p.Met3181Arg
ENST00000614259.2:c.9550T>G	ENSP00000506251.1:n.9550T>G
ENST00000665585.1:c.2420T>G
ENST00000680887.1:c.9542T>G	ENSP00000505508.1:p.Met3181Arg
ENST00000380152.7:c.9542T>G	ENSP00000369497.3:p.Met3181Arg
ENST00000470094.1:c.625T>G
ENST00000533776.1:n.130T>G
ENST00000544455.5:c.9542T>G	ENSP00000439902.1:p.Met3181Arg
NM_000059.3:c.9542T>G , LRG_293t1:c.9542T>G	NP_000050.2:p.Met3181Arg
XM_011535203.1:c.9542T>G	XP_011533505.1:p.Met3181Arg
XM_011535204.1:c.9446T>G	XP_011533506.1:p.Met3149Arg
NM_000059.4:c.9542T>G MANE Select	NP_000050.3:p.Met3181Arg