Canonical Allele Identifier: CA387766642

Gene: BRCA2

Linked Data

• dbSNP Id: rs747850861
• MyVariant Identifiers: chr13:g.32972519T>A (hg19) ; chr13:g.32398382T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398382T>A , CM000675.2:g.32398382T>A	GRCh38
NC_000013.10:g.32972519T>A , CM000675.1:g.32972519T>A	GRCh37
NC_000013.9:g.31870519T>A	NCBI36
NG_012772.3:g.87903T>A , LRG_293:g.87903T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*392T>A	ENSP00000434898.2:n.*392T>A
ENST00000528762.2:c.*1236T>A	ENSP00000433168.2:n.*1236T>A
ENST00000530893.7:c.9500T>A	ENSP00000499438.2:p.Val3167Asp
ENST00000665585.2:c.*1431T>A	ENSP00000499570.2:n.*1431T>A
ENST00000700202.2:c.9818T>A	ENSP00000514856.2:p.Val3273Asp
ENST00000700202.1:c.2285T>A	ENSP00000514856.1:p.Val762Asp
ENST00000700203.1:n.1996T>A
ENST00000380152.8:c.9869T>A MANE Select	ENSP00000369497.3:p.Val3290Asp
ENST00000544455.6:c.9869T>A	ENSP00000439902.1:p.Val3290Asp
ENST00000614259.2:c.9877T>A	ENSP00000506251.1:n.9877T>A
ENST00000680887.1:c.9869T>A	ENSP00000505508.1:p.Val3290Asp
ENST00000380152.7:c.9869T>A	ENSP00000369497.3:p.Val3290Asp
ENST00000533776.1:n.457T>A
ENST00000544455.5:c.9869T>A	ENSP00000439902.1:p.Val3290Asp
NM_000059.3:c.9869T>A , LRG_293t1:c.9869T>A	NP_000050.2:p.Val3290Asp
XM_011535203.1:c.9869T>A	XP_011533505.1:p.Val3290Asp
XM_011535204.1:c.9773T>A	XP_011533506.1:p.Val3258Asp
NM_000059.4:c.9869T>A MANE Select	NP_000050.3:p.Val3290Asp