Canonical Allele Identifier: CA025980

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38211
• ClinVar RCV Id: RCV000031794 ; RCV000045717 ; RCV000120368 ; RCV000130861 ; RCV000589726 ; RCV000735620
• dbSNP Id: rs80359165
• ExAC: 13:32954037 A / C
• gnomAD v2: 13-32954037-A-C
• gnomAD v3: 13-32379900-A-C
• gnomAD v4: 13-32379900-A-C
• MyVariant Identifiers: chr13:g.32954037A>C (hg19) ; chr13:g.32379900A>C (hg38)
• PubMed: PMID:10923033 ; PMID:19043619 ; PMID:20167696 ; PMID:21673748 ; PMID:21952622 ; PMID:22476429 ; PMID:23231788 ; PMID:24094589 ; PMID:24728327 ; PMID:25782689 ; PMID:25971625

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379900A>C , CM000675.2:g.32379900A>C	GRCh38
NC_000013.10:g.32954037A>C , CM000675.1:g.32954037A>C	GRCh37
NC_000013.9:g.31852037A>C	NCBI36
NG_012772.3:g.69421A>C , LRG_293:g.69421A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9104A>C	ENSP00000434898.2:p.Tyr3035Ser
ENST00000528762.2:c.*471A>C	ENSP00000433168.2:n.*471A>C
ENST00000530893.7:c.8735A>C	ENSP00000499438.2:p.Tyr2912Ser
ENST00000665585.2:c.*666A>C	ENSP00000499570.2:n.*666A>C
ENST00000666593.2:c.9104A>C	ENSP00000499256.2:p.Tyr3035Ser
ENST00000700202.2:c.9053A>C	ENSP00000514856.2:p.Tyr3018Ser
ENST00000700202.1:c.1520A>C	ENSP00000514856.1:p.Tyr507Ser
ENST00000700203.1:n.1231A>C
ENST00000380152.8:c.9104A>C MANE Select	ENSP00000369497.3:p.Tyr3035Ser
ENST00000544455.6:c.9104A>C	ENSP00000439902.1:p.Tyr3035Ser
ENST00000614259.2:c.9112A>C	ENSP00000506251.1:n.9112A>C
ENST00000665585.1:c.1982A>C
ENST00000680887.1:c.9104A>C	ENSP00000505508.1:p.Tyr3035Ser
ENST00000380152.7:c.9104A>C	ENSP00000369497.3:p.Tyr3035Ser
ENST00000470094.1:c.61A>C
ENST00000544455.5:c.9104A>C	ENSP00000439902.1:p.Tyr3035Ser
NM_000059.3:c.9104A>C , LRG_293t1:c.9104A>C	NP_000050.2:p.Tyr3035Ser
XM_011535203.1:c.9104A>C	XP_011533505.1:p.Tyr3035Ser
XM_011535204.1:c.9008A>C	XP_011533506.1:p.Tyr3003Ser
NM_000059.4:c.9104A>C MANE Select	NP_000050.3:p.Tyr3035Ser