Canonical Allele Identifier: CA014900

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 37780
• ClinVar RCV Id: RCV000031361 ; RCV000221509 ; RCV000416556 ; RCV000508014 ; RCV001318869 ; RCV003473163
• dbSNP Id: rs80358500
• ExAC: 13:32893375 A / G
• gnomAD v2: 13-32893375-A-G
• gnomAD v3: 13-32319238-A-G
• gnomAD v4: 13-32319238-A-G
• MyVariant Identifiers: chr13:g.32893375A>G (hg19) ; chr13:g.32319238A>G (hg38)
• PubMed: PMID:9126734 ; PMID:18284688 ; PMID:24448238 ; PMID:24835992 ; PMID:26566862

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319238A>G , CM000675.2:g.32319238A>G	GRCh38
NC_000013.10:g.32893375A>G , CM000675.1:g.32893375A>G	GRCh37
NC_000013.9:g.31791375A>G	NCBI36
NG_012772.3:g.8759A>G , LRG_293:g.8759A>G
NG_017006.2:g.1126T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.229A>G	ENSP00000434898.2:p.Thr77Ala
ENST00000528762.2:c.229A>G	ENSP00000433168.2:p.Thr77Ala
ENST00000530893.7:c.-141A>G	ENSP00000499438.2:n.-141A>G
ENST00000665585.2:c.229A>G	ENSP00000499570.2:p.Thr77Ala
ENST00000666593.2:c.229A>G	ENSP00000499256.2:p.Thr77Ala
ENST00000700202.2:c.229A>G	ENSP00000514856.2:p.Thr77Ala
ENST00000700200.1:n.191+2711A>G
ENST00000700201.1:c.229A>G	ENSP00000514855.1:p.Thr77Ala
ENST00000380152.8:c.229A>G MANE Select	ENSP00000369497.3:p.Thr77Ala
ENST00000544455.6:c.229A>G	ENSP00000439902.1:p.Thr77Ala
ENST00000614259.2:c.229A>G	ENSP00000506251.1:p.Thr77Ala
ENST00000680887.1:c.229A>G	ENSP00000505508.1:p.Thr77Ala
ENST00000380152.7:c.229A>G	ENSP00000369497.3:p.Thr77Ala
ENST00000530893.6:n.427A>G
ENST00000544455.5:c.229A>G	ENSP00000439902.1:p.Thr77Ala
ENST00000614259.1:n.229A>G
NM_000059.3:c.229A>G , LRG_293t1:c.229A>G	NP_000050.2:p.Thr77Ala
XM_011535203.1:c.229A>G	XP_011533505.1:p.Thr77Ala
XM_011535204.1:c.229A>G	XP_011533506.1:p.Thr77Ala
XM_011535205.1:c.229A>G	XP_011533507.1:p.Thr77Ala
NM_000059.4:c.229A>G MANE Select	NP_000050.3:p.Thr77Ala