Canonical Allele Identifier: CA387767804

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137666037
• MyVariant Identifiers: chr13:g.32972692A>T (hg19) ; chr13:g.32398555A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398555A>T , CM000675.2:g.32398555A>T	GRCh38
NC_000013.10:g.32972692A>T , CM000675.1:g.32972692A>T	GRCh37
NC_000013.9:g.31870692A>T	NCBI36
NG_012772.3:g.88076A>T , LRG_293:g.88076A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*565A>T	ENSP00000434898.2:n.*565A>T
ENST00000528762.2:c.*1409A>T	ENSP00000433168.2:n.*1409A>T
ENST00000530893.7:c.9673A>T	ENSP00000499438.2:p.Asn3225Tyr
ENST00000665585.2:c.*1604A>T	ENSP00000499570.2:n.*1604A>T
ENST00000700202.2:c.9991A>T	ENSP00000514856.2:p.Asn3331Tyr
ENST00000700202.1:c.2458A>T	ENSP00000514856.1:p.Asn820Tyr
ENST00000700203.1:n.2169A>T
ENST00000380152.8:c.10042A>T MANE Select	ENSP00000369497.3:p.Asn3348Tyr
ENST00000544455.6:c.10042A>T	ENSP00000439902.1:p.Asn3348Tyr
ENST00000614259.2:c.10050A>T	ENSP00000506251.1:n.10050A>T
ENST00000680887.1:c.10042A>T	ENSP00000505508.1:p.Asn3348Tyr
ENST00000380152.7:c.10042A>T	ENSP00000369497.3:p.Asn3348Tyr
ENST00000544455.5:c.10042A>T	ENSP00000439902.1:p.Asn3348Tyr
NM_000059.3:c.10042A>T , LRG_293t1:c.10042A>T	NP_000050.2:p.Asn3348Tyr
XM_011535203.1:c.10042A>T	XP_011533505.1:p.Asn3348Tyr
XM_011535204.1:c.9946A>T	XP_011533506.1:p.Asn3316Tyr
NM_000059.4:c.10042A>T MANE Select	NP_000050.3:p.Asn3348Tyr