Canonical Allele Identifier: CA387758623

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 531435
• ClinVar RCV Id: RCV000637798 ; RCV002377385
• dbSNP Id: rs80359189
• MyVariant Identifiers: chr13:g.32954268T>G (hg19) ; chr13:g.32380131T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380131T>G , CM000675.2:g.32380131T>G	GRCh38
NC_000013.10:g.32954268T>G , CM000675.1:g.32954268T>G	GRCh37
NC_000013.9:g.31852268T>G	NCBI36
NG_012772.3:g.69652T>G , LRG_293:g.69652T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9242T>G	ENSP00000434898.2:p.Val3081Gly
ENST00000528762.2:c.*609T>G	ENSP00000433168.2:n.*609T>G
ENST00000530893.7:c.8873T>G	ENSP00000499438.2:p.Val2958Gly
ENST00000665585.2:c.*804T>G	ENSP00000499570.2:n.*804T>G
ENST00000666593.2:c.9242T>G	ENSP00000499256.2:p.Val3081Gly
ENST00000700202.2:c.9191T>G	ENSP00000514856.2:p.Val3064Gly
ENST00000700202.1:c.1658T>G	ENSP00000514856.1:p.Val553Gly
ENST00000700203.1:n.1369T>G
ENST00000380152.8:c.9242T>G MANE Select	ENSP00000369497.3:p.Val3081Gly
ENST00000544455.6:c.9242T>G	ENSP00000439902.1:p.Val3081Gly
ENST00000614259.2:c.9250T>G	ENSP00000506251.1:n.9250T>G
ENST00000665585.1:c.2120T>G
ENST00000666593.1:c.125T>G	ENSP00000499256.1:p.Val42Gly
ENST00000680887.1:c.9242T>G	ENSP00000505508.1:p.Val3081Gly
ENST00000380152.7:c.9242T>G	ENSP00000369497.3:p.Val3081Gly
ENST00000470094.1:c.199T>G
ENST00000544455.5:c.9242T>G	ENSP00000439902.1:p.Val3081Gly
NM_000059.3:c.9242T>G , LRG_293t1:c.9242T>G	NP_000050.2:p.Val3081Gly
XM_011535203.1:c.9242T>G	XP_011533505.1:p.Val3081Gly
XM_011535204.1:c.9146T>G	XP_011533506.1:p.Val3049Gly
NM_000059.4:c.9242T>G MANE Select	NP_000050.3:p.Val3081Gly