Canonical Allele Identifier: CA483440379

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1127763
• ClinVar RCV Id: RCV001460274
• dbSNP Id: rs2137666059
• MyVariant Identifiers: chr13:g.32972694T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398557T>C , CM000675.2:g.32398557T>C	GRCh38
NC_000013.10:g.32972694T>C , CM000675.1:g.32972694T>C	GRCh37
NC_000013.9:g.31870694T>C	NCBI36
NG_012772.3:g.88078T>C , LRG_293:g.88078T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*567T>C	ENSP00000434898.2:n.*567T>C
ENST00000528762.2:c.*1411T>C	ENSP00000433168.2:n.*1411T>C
ENST00000530893.7:c.9675T>C	ENSP00000499438.2:p.Asn3225=
ENST00000665585.2:c.*1606T>C	ENSP00000499570.2:n.*1606T>C
ENST00000700202.2:c.9993T>C	ENSP00000514856.2:p.Asn3331=
ENST00000700202.1:c.2460T>C	ENSP00000514856.1:p.Asn820=
ENST00000700203.1:n.2171T>C
ENST00000380152.8:c.10044T>C MANE Select	ENSP00000369497.3:p.Asn3348=
ENST00000544455.6:c.10044T>C	ENSP00000439902.1:p.Asn3348=
ENST00000614259.2:c.10052T>C	ENSP00000506251.1:n.10052T>C
ENST00000680887.1:c.10044T>C	ENSP00000505508.1:p.Asn3348=
ENST00000380152.7:c.10044T>C	ENSP00000369497.3:p.Asn3348=
ENST00000544455.5:c.10044T>C	ENSP00000439902.1:p.Asn3348=
NM_000059.3:c.10044T>C , LRG_293t1:c.10044T>C	NP_000050.2:p.Asn3348=
XM_011535203.1:c.10044T>C	XP_011533505.1:p.Asn3348=
XM_011535204.1:c.9948T>C	XP_011533506.1:p.Asn3316=
NM_000059.4:c.10044T>C MANE Select	NP_000050.3:p.Asn3348=