Canonical Allele Identifier: CA387766002

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972441A>C (hg19) ; chr13:g.32398304A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398304A>C , CM000675.2:g.32398304A>C	GRCh38
NC_000013.10:g.32972441A>C , CM000675.1:g.32972441A>C	GRCh37
NC_000013.9:g.31870441A>C	NCBI36
NG_012772.3:g.87825A>C , LRG_293:g.87825A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*314A>C	ENSP00000434898.2:n.*314A>C
ENST00000528762.2:c.*1158A>C	ENSP00000433168.2:n.*1158A>C
ENST00000530893.7:c.9422A>C	ENSP00000499438.2:p.Asn3141Thr
ENST00000665585.2:c.*1353A>C	ENSP00000499570.2:n.*1353A>C
ENST00000700202.2:c.9740A>C	ENSP00000514856.2:p.Asn3247Thr
ENST00000700202.1:c.2207A>C	ENSP00000514856.1:p.Asn736Thr
ENST00000700203.1:n.1918A>C
ENST00000380152.8:c.9791A>C MANE Select	ENSP00000369497.3:p.Asn3264Thr
ENST00000544455.6:c.9791A>C	ENSP00000439902.1:p.Asn3264Thr
ENST00000614259.2:c.9799A>C	ENSP00000506251.1:n.9799A>C
ENST00000680887.1:c.9791A>C	ENSP00000505508.1:p.Asn3264Thr
ENST00000380152.7:c.9791A>C	ENSP00000369497.3:p.Asn3264Thr
ENST00000533776.1:n.379A>C
ENST00000544455.5:c.9791A>C	ENSP00000439902.1:p.Asn3264Thr
NM_000059.3:c.9791A>C , LRG_293t1:c.9791A>C	NP_000050.2:p.Asn3264Thr
XM_011535203.1:c.9791A>C	XP_011533505.1:p.Asn3264Thr
XM_011535204.1:c.9695A>C	XP_011533506.1:p.Asn3232Thr
NM_000059.4:c.9791A>C MANE Select	NP_000050.3:p.Asn3264Thr