Canonical Allele Identifier: CA025761

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 185303
• ClinVar RCV Id: RCV000164699 ; RCV000495732 ; RCV000556857 ; RCV000614980 ; RCV001721064 ; RCV004539550
• dbSNP Id: rs786202069
• gnomAD v4: 13-32376686-A-G
• MyVariant Identifiers: chr13:g.32950823A>G (hg19) ; chr13:g.32376686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376686A>G , CM000675.2:g.32376686A>G	GRCh38
NC_000013.10:g.32950823A>G , CM000675.1:g.32950823A>G	GRCh37
NC_000013.9:g.31848823A>G	NCBI36
NG_012772.3:g.66207A>G , LRG_293:g.66207A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8649A>G	ENSP00000434898.2:p.Pro2883=
ENST00000528762.2:c.*16A>G	ENSP00000433168.2:n.*16A>G
ENST00000530893.7:c.8280A>G	ENSP00000499438.2:p.Pro2760=
ENST00000665585.2:c.*211A>G	ENSP00000499570.2:n.*211A>G
ENST00000666593.2:c.8649A>G	ENSP00000499256.2:p.Pro2883=
ENST00000700202.2:c.8649A>G	ENSP00000514856.2:p.Pro2883=
ENST00000700202.1:c.1116A>G	ENSP00000514856.1:p.Pro372=
ENST00000700203.1:n.776A>G
ENST00000380152.8:c.8649A>G MANE Select	ENSP00000369497.3:p.Pro2883=
ENST00000544455.6:c.8649A>G	ENSP00000439902.1:p.Pro2883=
ENST00000614259.2:c.8657A>G	ENSP00000506251.1:n.8657A>G
ENST00000665585.1:c.1527A>G
ENST00000680887.1:c.8649A>G	ENSP00000505508.1:p.Pro2883=
ENST00000380152.7:c.8649A>G	ENSP00000369497.3:p.Pro2883=
ENST00000528762.1:c.211A>G	ENSP00000433168.1:n.211A>G
ENST00000544455.5:c.8649A>G	ENSP00000439902.1:p.Pro2883=
NM_000059.3:c.8649A>G , LRG_293t1:c.8649A>G	NP_000050.2:p.Pro2883=
XM_011535203.1:c.8649A>G	XP_011533505.1:p.Pro2883=
XM_011535204.1:c.8553A>G	XP_011533506.1:p.Pro2851=
XM_011535205.1:c.8649A>G	XP_011533507.1:p.Pro2883=
NM_000059.4:c.8649A>G MANE Select	NP_000050.3:p.Pro2883=