Canonical Allele Identifier: CA387754634

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 822624
• ClinVar RCV Id: RCV001018116 ; RCV001772193 ; RCV002549472 ; RCV004004574
• dbSNP Id: rs1593934753
• gnomAD v4: 13-32376678-A-G
• MyVariant Identifiers: chr13:g.32950815A>G (hg19) ; chr13:g.32376678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376678A>G , CM000675.2:g.32376678A>G	GRCh38
NC_000013.10:g.32950815A>G , CM000675.1:g.32950815A>G	GRCh37
NC_000013.9:g.31848815A>G	NCBI36
NG_012772.3:g.66199A>G , LRG_293:g.66199A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8641A>G	ENSP00000434898.2:p.Thr2881Ala
ENST00000528762.2:c.*8A>G	ENSP00000433168.2:n.*8A>G
ENST00000530893.7:c.8272A>G	ENSP00000499438.2:p.Thr2758Ala
ENST00000665585.2:c.*203A>G	ENSP00000499570.2:n.*203A>G
ENST00000666593.2:c.8641A>G	ENSP00000499256.2:p.Thr2881Ala
ENST00000700202.2:c.8641A>G	ENSP00000514856.2:p.Thr2881Ala
ENST00000700202.1:c.1108A>G	ENSP00000514856.1:p.Thr370Ala
ENST00000700203.1:n.768A>G
ENST00000380152.8:c.8641A>G MANE Select	ENSP00000369497.3:p.Thr2881Ala
ENST00000544455.6:c.8641A>G	ENSP00000439902.1:p.Thr2881Ala
ENST00000614259.2:c.8649A>G	ENSP00000506251.1:n.8649A>G
ENST00000665585.1:c.1519A>G
ENST00000680887.1:c.8641A>G	ENSP00000505508.1:p.Thr2881Ala
ENST00000380152.7:c.8641A>G	ENSP00000369497.3:p.Thr2881Ala
ENST00000528762.1:c.203A>G	ENSP00000433168.1:n.203A>G
ENST00000544455.5:c.8641A>G	ENSP00000439902.1:p.Thr2881Ala
NM_000059.3:c.8641A>G , LRG_293t1:c.8641A>G	NP_000050.2:p.Thr2881Ala
XM_011535203.1:c.8641A>G	XP_011533505.1:p.Thr2881Ala
XM_011535204.1:c.8545A>G	XP_011533506.1:p.Thr2849Ala
XM_011535205.1:c.8641A>G	XP_011533507.1:p.Thr2881Ala
NM_000059.4:c.8641A>G MANE Select	NP_000050.3:p.Thr2881Ala