Canonical Allele Identifier: CA16020672

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462329
• ClinVar RCV Id: RCV000531813 ; RCV000574569 ; RCV001260350 ; RCV000759615 ; RCV003447540
• dbSNP Id: rs1409088355
• gnomAD v2: 13-32912657-T-G
• gnomAD v3: 13-32338520-T-G
• gnomAD v4: 13-32338520-T-G
• COSMIC: COSM1736922 ; COSM1736923
• MyVariant Identifiers: chr13:g.32912657T>G (hg19) ; chr13:g.32338520T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338520T>G , CM000675.2:g.32338520T>G	GRCh38
NC_000013.10:g.32912657T>G , CM000675.1:g.32912657T>G	GRCh37
NC_000013.9:g.31810657T>G	NCBI36
NG_012772.3:g.28041T>G , LRG_293:g.28041T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4165T>G	ENSP00000434898.2:p.Phe1389Val
ENST00000528762.2:c.4165T>G	ENSP00000433168.2:p.Phe1389Val
ENST00000530893.7:c.3796T>G	ENSP00000499438.2:p.Phe1266Val
ENST00000665585.2:c.4165T>G	ENSP00000499570.2:p.Phe1389Val
ENST00000666593.2:c.4165T>G	ENSP00000499256.2:p.Phe1389Val
ENST00000700202.2:c.4165T>G	ENSP00000514856.2:p.Phe1389Val
ENST00000380152.8:c.4165T>G MANE Select	ENSP00000369497.3:p.Phe1389Val
ENST00000544455.6:c.4165T>G	ENSP00000439902.1:p.Phe1389Val
ENST00000614259.2:c.4165T>G	ENSP00000506251.1:p.Phe1389Val
ENST00000680887.1:c.4165T>G	ENSP00000505508.1:p.Phe1389Val
ENST00000380152.7:c.4165T>G	ENSP00000369497.3:p.Phe1389Val
ENST00000544455.5:c.4165T>G	ENSP00000439902.1:p.Phe1389Val
ENST00000614259.1:n.4165T>G
NM_000059.3:c.4165T>G , LRG_293t1:c.4165T>G	NP_000050.2:p.Phe1389Val
XM_011535203.1:c.4165T>G	XP_011533505.1:p.Phe1389Val
XM_011535204.1:c.4165T>G	XP_011533506.1:p.Phe1389Val
XM_011535205.1:c.4165T>G	XP_011533507.1:p.Phe1389Val
NM_000059.4:c.4165T>G MANE Select	NP_000050.3:p.Phe1389Val