Canonical Allele Identifier: CA387763230

Gene: BRCA2

Linked Data

• dbSNP Id: rs2073040786
• MyVariant Identifiers: chr13:g.32971089G>C (hg19) ; chr13:g.32396952G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396952G>C , CM000675.2:g.32396952G>C	GRCh38
NC_000013.10:g.32971089G>C , CM000675.1:g.32971089G>C	GRCh37
NC_000013.9:g.31869089G>C	NCBI36
NG_012772.3:g.86473G>C , LRG_293:g.86473G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*79G>C	ENSP00000434898.2:n.*79G>C
ENST00000528762.2:c.*923G>C	ENSP00000433168.2:n.*923G>C
ENST00000530893.7:c.9187G>C	ENSP00000499438.2:p.Ala3063Pro
ENST00000665585.2:c.*1118G>C	ENSP00000499570.2:n.*1118G>C
ENST00000700202.2:c.9505G>C	ENSP00000514856.2:p.Ala3169Pro
ENST00000700202.1:c.1972G>C	ENSP00000514856.1:p.Ala658Pro
ENST00000700203.1:n.1683G>C
ENST00000380152.8:c.9556G>C MANE Select	ENSP00000369497.3:p.Ala3186Pro
ENST00000544455.6:c.9556G>C	ENSP00000439902.1:p.Ala3186Pro
ENST00000614259.2:c.9564G>C	ENSP00000506251.1:n.9564G>C
ENST00000665585.1:c.2434G>C
ENST00000680887.1:c.9556G>C	ENSP00000505508.1:p.Ala3186Pro
ENST00000380152.7:c.9556G>C	ENSP00000369497.3:p.Ala3186Pro
ENST00000470094.1:c.639G>C
ENST00000533776.1:n.144G>C
ENST00000544455.5:c.9556G>C	ENSP00000439902.1:p.Ala3186Pro
NM_000059.3:c.9556G>C , LRG_293t1:c.9556G>C	NP_000050.2:p.Ala3186Pro
XM_011535203.1:c.9556G>C	XP_011533505.1:p.Ala3186Pro
XM_011535204.1:c.9460G>C	XP_011533506.1:p.Ala3154Pro
NM_000059.4:c.9556G>C MANE Select	NP_000050.3:p.Ala3186Pro