Canonical Allele Identifier: CA026324

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 91537
• ClinVar RCV Id: RCV002381390
• dbSNP Id: rs398122625
• MyVariant Identifiers: chr13:g.32972546A>C (hg19) ; chr13:g.32398409A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398409A>C , CM000675.2:g.32398409A>C	GRCh38
NC_000013.10:g.32972546A>C , CM000675.1:g.32972546A>C	GRCh37
NC_000013.9:g.31870546A>C	NCBI36
NG_012772.3:g.87930A>C , LRG_293:g.87930A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*419A>C	ENSP00000434898.2:n.*419A>C
ENST00000528762.2:c.*1263A>C	ENSP00000433168.2:n.*1263A>C
ENST00000530893.7:c.9527A>C	ENSP00000499438.2:p.Gln3176Pro
ENST00000665585.2:c.*1458A>C	ENSP00000499570.2:n.*1458A>C
ENST00000700202.2:c.9845A>C	ENSP00000514856.2:p.Gln3282Pro
ENST00000700202.1:c.2312A>C	ENSP00000514856.1:p.Gln771Pro
ENST00000700203.1:n.2023A>C
ENST00000380152.8:c.9896A>C MANE Select	ENSP00000369497.3:p.Gln3299Pro
ENST00000544455.6:c.9896A>C	ENSP00000439902.1:p.Gln3299Pro
ENST00000614259.2:c.9904A>C	ENSP00000506251.1:n.9904A>C
ENST00000680887.1:c.9896A>C	ENSP00000505508.1:p.Gln3299Pro
ENST00000380152.7:c.9896A>C	ENSP00000369497.3:p.Gln3299Pro
ENST00000533776.1:n.484A>C
ENST00000544455.5:c.9896A>C	ENSP00000439902.1:p.Gln3299Pro
NM_000059.3:c.9896A>C , LRG_293t1:c.9896A>C	NP_000050.2:p.Gln3299Pro
XM_011535203.1:c.9896A>C	XP_011533505.1:p.Gln3299Pro
XM_011535204.1:c.9800A>C	XP_011533506.1:p.Gln3267Pro
NM_000059.4:c.9896A>C MANE Select	NP_000050.3:p.Gln3299Pro