Canonical Allele Identifier: CA387767332

Gene: BRCA2

Linked Data

• dbSNP Id: rs80359256
• MyVariant Identifiers: chr13:g.32972602A>T (hg19) ; chr13:g.32398465A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398465A>T , CM000675.2:g.32398465A>T	GRCh38
NC_000013.10:g.32972602A>T , CM000675.1:g.32972602A>T	GRCh37
NC_000013.9:g.31870602A>T	NCBI36
NG_012772.3:g.87986A>T , LRG_293:g.87986A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*475A>T	ENSP00000434898.2:n.*475A>T
ENST00000528762.2:c.*1319A>T	ENSP00000433168.2:n.*1319A>T
ENST00000530893.7:c.9583A>T	ENSP00000499438.2:p.Asn3195Tyr
ENST00000665585.2:c.*1514A>T	ENSP00000499570.2:n.*1514A>T
ENST00000700202.2:c.9901A>T	ENSP00000514856.2:p.Asn3301Tyr
ENST00000700202.1:c.2368A>T	ENSP00000514856.1:p.Asn790Tyr
ENST00000700203.1:n.2079A>T
ENST00000380152.8:c.9952A>T MANE Select	ENSP00000369497.3:p.Asn3318Tyr
ENST00000544455.6:c.9952A>T	ENSP00000439902.1:p.Asn3318Tyr
ENST00000614259.2:c.9960A>T	ENSP00000506251.1:n.9960A>T
ENST00000680887.1:c.9952A>T	ENSP00000505508.1:p.Asn3318Tyr
ENST00000380152.7:c.9952A>T	ENSP00000369497.3:p.Asn3318Tyr
ENST00000544455.5:c.9952A>T	ENSP00000439902.1:p.Asn3318Tyr
NM_000059.3:c.9952A>T , LRG_293t1:c.9952A>T	NP_000050.2:p.Asn3318Tyr
XM_011535203.1:c.9952A>T	XP_011533505.1:p.Asn3318Tyr
XM_011535204.1:c.9856A>T	XP_011533506.1:p.Asn3286Tyr
NM_000059.4:c.9952A>T MANE Select	NP_000050.3:p.Asn3318Tyr