Canonical Allele Identifier: CA387757888

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 481512
• ClinVar RCV Id: RCV000564771 ; RCV001858183 ; RCV003459319
• dbSNP Id: rs886040823
• MyVariant Identifiers: chr13:g.32954173C>G (hg19) ; chr13:g.32380036C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380036C>G , CM000675.2:g.32380036C>G	GRCh38
NC_000013.10:g.32954173C>G , CM000675.1:g.32954173C>G	GRCh37
NC_000013.9:g.31852173C>G	NCBI36
NG_012772.3:g.69557C>G , LRG_293:g.69557C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9147C>G	ENSP00000434898.2:p.Tyr3049Ter
ENST00000528762.2:c.*514C>G	ENSP00000433168.2:n.*514C>G
ENST00000530893.7:c.8778C>G	ENSP00000499438.2:p.Tyr2926Ter
ENST00000665585.2:c.*709C>G	ENSP00000499570.2:n.*709C>G
ENST00000666593.2:c.9147C>G	ENSP00000499256.2:p.Tyr3049Ter
ENST00000700202.2:c.9096C>G	ENSP00000514856.2:p.Tyr3032Ter
ENST00000700202.1:c.1563C>G	ENSP00000514856.1:p.Tyr521Ter
ENST00000700203.1:n.1274C>G
ENST00000380152.8:c.9147C>G MANE Select	ENSP00000369497.3:p.Tyr3049Ter
ENST00000544455.6:c.9147C>G	ENSP00000439902.1:p.Tyr3049Ter
ENST00000614259.2:c.9155C>G	ENSP00000506251.1:n.9155C>G
ENST00000665585.1:c.2025C>G
ENST00000666593.1:c.30C>G	ENSP00000499256.1:p.Tyr10Ter
ENST00000680887.1:c.9147C>G	ENSP00000505508.1:p.Tyr3049Ter
ENST00000380152.7:c.9147C>G	ENSP00000369497.3:p.Tyr3049Ter
ENST00000470094.1:c.104C>G
ENST00000544455.5:c.9147C>G	ENSP00000439902.1:p.Tyr3049Ter
NM_000059.3:c.9147C>G , LRG_293t1:c.9147C>G	NP_000050.2:p.Tyr3049Ter
XM_011535203.1:c.9147C>G	XP_011533505.1:p.Tyr3049Ter
XM_011535204.1:c.9051C>G	XP_011533506.1:p.Tyr3017Ter
NM_000059.4:c.9147C>G MANE Select	NP_000050.3:p.Tyr3049Ter