Canonical Allele Identifier: CA387754948

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 822682
• ClinVar RCV Id: RCV001018233 ; RCV001860898 ; RCV004004576
• dbSNP Id: rs1593934954
• gnomAD v4: 13-32376756-G-A
• MyVariant Identifiers: chr13:g.32950893G>A (hg19) ; chr13:g.32376756G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376756G>A , CM000675.2:g.32376756G>A	GRCh38
NC_000013.10:g.32950893G>A , CM000675.1:g.32950893G>A	GRCh37
NC_000013.9:g.31848893G>A	NCBI36
NG_012772.3:g.66277G>A , LRG_293:g.66277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8719G>A	ENSP00000434898.2:p.Ala2907Thr
ENST00000528762.2:c.*86G>A	ENSP00000433168.2:n.*86G>A
ENST00000530893.7:c.8350G>A	ENSP00000499438.2:p.Ala2784Thr
ENST00000665585.2:c.*281G>A	ENSP00000499570.2:n.*281G>A
ENST00000666593.2:c.8719G>A	ENSP00000499256.2:p.Ala2907Thr
ENST00000700202.2:c.8719G>A	ENSP00000514856.2:p.Ala2907Thr
ENST00000700202.1:c.1186G>A	ENSP00000514856.1:p.Ala396Thr
ENST00000700203.1:n.846G>A
ENST00000380152.8:c.8719G>A MANE Select	ENSP00000369497.3:p.Ala2907Thr
ENST00000544455.6:c.8719G>A	ENSP00000439902.1:p.Ala2907Thr
ENST00000614259.2:c.8727G>A	ENSP00000506251.1:n.8727G>A
ENST00000665585.1:c.1597G>A
ENST00000680887.1:c.8719G>A	ENSP00000505508.1:p.Ala2907Thr
ENST00000380152.7:c.8719G>A	ENSP00000369497.3:p.Ala2907Thr
ENST00000528762.1:c.281G>A	ENSP00000433168.1:n.281G>A
ENST00000544455.5:c.8719G>A	ENSP00000439902.1:p.Ala2907Thr
NM_000059.3:c.8719G>A , LRG_293t1:c.8719G>A	NP_000050.2:p.Ala2907Thr
XM_011535203.1:c.8719G>A	XP_011533505.1:p.Ala2907Thr
XM_011535204.1:c.8623G>A	XP_011533506.1:p.Ala2875Thr
XM_011535205.1:c.8719G>A	XP_011533507.1:p.Ala2907Thr
NM_000059.4:c.8719G>A MANE Select	NP_000050.3:p.Ala2907Thr