Canonical Allele Identifier: CA387766804

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462539
• ClinVar RCV Id: RCV000557909 ; RCV002255442
• dbSNP Id: rs1555289995
• MyVariant Identifiers: chr13:g.32972539G>C (hg19) ; chr13:g.32398402G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398402G>C , CM000675.2:g.32398402G>C	GRCh38
NC_000013.10:g.32972539G>C , CM000675.1:g.32972539G>C	GRCh37
NC_000013.9:g.31870539G>C	NCBI36
NG_012772.3:g.87923G>C , LRG_293:g.87923G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*412G>C	ENSP00000434898.2:n.*412G>C
ENST00000528762.2:c.*1256G>C	ENSP00000433168.2:n.*1256G>C
ENST00000530893.7:c.9520G>C	ENSP00000499438.2:p.Ala3174Pro
ENST00000665585.2:c.*1451G>C	ENSP00000499570.2:n.*1451G>C
ENST00000700202.2:c.9838G>C	ENSP00000514856.2:p.Ala3280Pro
ENST00000700202.1:c.2305G>C	ENSP00000514856.1:p.Ala769Pro
ENST00000700203.1:n.2016G>C
ENST00000380152.8:c.9889G>C MANE Select	ENSP00000369497.3:p.Ala3297Pro
ENST00000544455.6:c.9889G>C	ENSP00000439902.1:p.Ala3297Pro
ENST00000614259.2:c.9897G>C	ENSP00000506251.1:n.9897G>C
ENST00000680887.1:c.9889G>C	ENSP00000505508.1:p.Ala3297Pro
ENST00000380152.7:c.9889G>C	ENSP00000369497.3:p.Ala3297Pro
ENST00000533776.1:n.477G>C
ENST00000544455.5:c.9889G>C	ENSP00000439902.1:p.Ala3297Pro
NM_000059.3:c.9889G>C , LRG_293t1:c.9889G>C	NP_000050.2:p.Ala3297Pro
XM_011535203.1:c.9889G>C	XP_011533505.1:p.Ala3297Pro
XM_011535204.1:c.9793G>C	XP_011533506.1:p.Ala3265Pro
NM_000059.4:c.9889G>C MANE Select	NP_000050.3:p.Ala3297Pro