Canonical Allele Identifier: CA026172

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 188441
• ClinVar RCV Id: RCV000572867 ; RCV000779966 ; RCV000980470 ; RCV001564816 ; RCV003995629
• dbSNP Id: rs786204284
• gnomAD v3: 13-32394904-A-G
• gnomAD v4: 13-32394904-A-G
• MyVariant Identifiers: chr13:g.32969041A>G (hg19) ; chr13:g.32394904A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394904A>G , CM000675.2:g.32394904A>G	GRCh38
NC_000013.10:g.32969041A>G , CM000675.1:g.32969041A>G	GRCh37
NC_000013.9:g.31867041A>G	NCBI36
NG_012772.3:g.84425A>G , LRG_293:g.84425A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9472A>G	ENSP00000434898.2:p.Thr3158Ala
ENST00000528762.2:c.*839A>G	ENSP00000433168.2:n.*839A>G
ENST00000530893.7:c.9103A>G	ENSP00000499438.2:p.Thr3035Ala
ENST00000665585.2:c.*1034A>G	ENSP00000499570.2:n.*1034A>G
ENST00000666593.2:c.*317A>G	ENSP00000499256.2:n.*317A>G
ENST00000700202.2:c.9421A>G	ENSP00000514856.2:p.Thr3141Ala
ENST00000700202.1:c.1888A>G	ENSP00000514856.1:p.Thr630Ala
ENST00000700203.1:n.1599A>G
ENST00000380152.8:c.9472A>G MANE Select	ENSP00000369497.3:p.Thr3158Ala
ENST00000544455.6:c.9472A>G	ENSP00000439902.1:p.Thr3158Ala
ENST00000614259.2:c.9480A>G	ENSP00000506251.1:n.9480A>G
ENST00000665585.1:c.2350A>G
ENST00000666593.1:c.494A>G	ENSP00000499256.1:n.494A>G
ENST00000680887.1:c.9472A>G	ENSP00000505508.1:p.Thr3158Ala
ENST00000380152.7:c.9472A>G	ENSP00000369497.3:p.Thr3158Ala
ENST00000470094.1:c.429A>G
ENST00000544455.5:c.9472A>G	ENSP00000439902.1:p.Thr3158Ala
NM_000059.3:c.9472A>G , LRG_293t1:c.9472A>G	NP_000050.2:p.Thr3158Ala
XM_011535203.1:c.9472A>G	XP_011533505.1:p.Thr3158Ala
XM_011535204.1:c.9376A>G	XP_011533506.1:p.Thr3126Ala
NM_000059.4:c.9472A>G MANE Select	NP_000050.3:p.Thr3158Ala