Canonical Allele Identifier: CA387765126

Gene: BRCA2

Linked Data

• dbSNP Id: rs1476681505
• MyVariant Identifiers: chr13:g.32972312A>T (hg19) ; chr13:g.32398175A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398175A>T , CM000675.2:g.32398175A>T	GRCh38
NC_000013.10:g.32972312A>T , CM000675.1:g.32972312A>T	GRCh37
NC_000013.9:g.31870312A>T	NCBI36
NG_012772.3:g.87696A>T , LRG_293:g.87696A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*185A>T	ENSP00000434898.2:n.*185A>T
ENST00000528762.2:c.*1029A>T	ENSP00000433168.2:n.*1029A>T
ENST00000530893.7:c.9293A>T	ENSP00000499438.2:p.Asn3098Ile
ENST00000665585.2:c.*1224A>T	ENSP00000499570.2:n.*1224A>T
ENST00000700202.2:c.9611A>T	ENSP00000514856.2:p.Asn3204Ile
ENST00000700202.1:c.2078A>T	ENSP00000514856.1:p.Asn693Ile
ENST00000700203.1:n.1789A>T
ENST00000380152.8:c.9662A>T MANE Select	ENSP00000369497.3:p.Asn3221Ile
ENST00000544455.6:c.9662A>T	ENSP00000439902.1:p.Asn3221Ile
ENST00000614259.2:c.9670A>T	ENSP00000506251.1:n.9670A>T
ENST00000665585.1:c.2540A>T
ENST00000680887.1:c.9662A>T	ENSP00000505508.1:p.Asn3221Ile
ENST00000380152.7:c.9662A>T	ENSP00000369497.3:p.Asn3221Ile
ENST00000470094.1:c.745A>T
ENST00000533776.1:n.250A>T
ENST00000544455.5:c.9662A>T	ENSP00000439902.1:p.Asn3221Ile
NM_000059.3:c.9662A>T , LRG_293t1:c.9662A>T	NP_000050.2:p.Asn3221Ile
XM_011535203.1:c.9662A>T	XP_011533505.1:p.Asn3221Ile
XM_011535204.1:c.9566A>T	XP_011533506.1:p.Asn3189Ile
NM_000059.4:c.9662A>T MANE Select	NP_000050.3:p.Asn3221Ile