Canonical Allele Identifier: CA10579504

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 233599
• ClinVar RCV Id: RCV000220224 ; RCV000637355 ; RCV002478814 ; RCV003998567
• dbSNP Id: rs876660511
• MyVariant Identifiers: chr13:g.32907387T>C (hg19) ; chr13:g.32333250T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333250T>C , CM000675.2:g.32333250T>C	GRCh38
NC_000013.10:g.32907387T>C , CM000675.1:g.32907387T>C	GRCh37
NC_000013.9:g.31805387T>C	NCBI36
NG_012772.3:g.22771T>C , LRG_293:g.22771T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1772T>C	ENSP00000434898.2:p.Ile591Thr
ENST00000528762.2:c.1772T>C	ENSP00000433168.2:p.Ile591Thr
ENST00000530893.7:c.1403T>C	ENSP00000499438.2:p.Ile468Thr
ENST00000665585.2:c.1772T>C	ENSP00000499570.2:p.Ile591Thr
ENST00000666593.2:c.1772T>C	ENSP00000499256.2:p.Ile591Thr
ENST00000700202.2:c.1772T>C	ENSP00000514856.2:p.Ile591Thr
ENST00000700201.1:c.*1551T>C	ENSP00000514855.1:n.*1551T>C
ENST00000380152.8:c.1772T>C MANE Select	ENSP00000369497.3:p.Ile591Thr
ENST00000544455.6:c.1772T>C	ENSP00000439902.1:p.Ile591Thr
ENST00000614259.2:c.1772T>C	ENSP00000506251.1:p.Ile591Thr
ENST00000680887.1:c.1772T>C	ENSP00000505508.1:p.Ile591Thr
ENST00000380152.7:c.1772T>C	ENSP00000369497.3:p.Ile591Thr
ENST00000530893.6:n.1970T>C
ENST00000544455.5:c.1772T>C	ENSP00000439902.1:p.Ile591Thr
ENST00000614259.1:n.1772T>C
NM_000059.3:c.1772T>C , LRG_293t1:c.1772T>C	NP_000050.2:p.Ile591Thr
XM_011535203.1:c.1772T>C	XP_011533505.1:p.Ile591Thr
XM_011535204.1:c.1772T>C	XP_011533506.1:p.Ile591Thr
XM_011535205.1:c.1772T>C	XP_011533507.1:p.Ile591Thr
NM_000059.4:c.1772T>C MANE Select	NP_000050.3:p.Ile591Thr