Canonical Allele Identifier: CA387765553

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972387C>A (hg19) ; chr13:g.32398250C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398250C>A , CM000675.2:g.32398250C>A	GRCh38
NC_000013.10:g.32972387C>A , CM000675.1:g.32972387C>A	GRCh37
NC_000013.9:g.31870387C>A	NCBI36
NG_012772.3:g.87771C>A , LRG_293:g.87771C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*260C>A	ENSP00000434898.2:n.*260C>A
ENST00000528762.2:c.*1104C>A	ENSP00000433168.2:n.*1104C>A
ENST00000530893.7:c.9368C>A	ENSP00000499438.2:p.Ala3123Asp
ENST00000665585.2:c.*1299C>A	ENSP00000499570.2:n.*1299C>A
ENST00000700202.2:c.9686C>A	ENSP00000514856.2:p.Ala3229Asp
ENST00000700202.1:c.2153C>A	ENSP00000514856.1:p.Ala718Asp
ENST00000700203.1:n.1864C>A
ENST00000380152.8:c.9737C>A MANE Select	ENSP00000369497.3:p.Ala3246Asp
ENST00000544455.6:c.9737C>A	ENSP00000439902.1:p.Ala3246Asp
ENST00000614259.2:c.9745C>A	ENSP00000506251.1:n.9745C>A
ENST00000680887.1:c.9737C>A	ENSP00000505508.1:p.Ala3246Asp
ENST00000380152.7:c.9737C>A	ENSP00000369497.3:p.Ala3246Asp
ENST00000470094.1:c.820C>A
ENST00000533776.1:n.325C>A
ENST00000544455.5:c.9737C>A	ENSP00000439902.1:p.Ala3246Asp
NM_000059.3:c.9737C>A , LRG_293t1:c.9737C>A	NP_000050.2:p.Ala3246Asp
XM_011535203.1:c.9737C>A	XP_011533505.1:p.Ala3246Asp
XM_011535204.1:c.9641C>A	XP_011533506.1:p.Ala3214Asp
NM_000059.4:c.9737C>A MANE Select	NP_000050.3:p.Ala3246Asp