Canonical Allele Identifier: CA387765845

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137663715
• MyVariant Identifiers: chr13:g.32972424G>C (hg19) ; chr13:g.32398287G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398287G>C , CM000675.2:g.32398287G>C	GRCh38
NC_000013.10:g.32972424G>C , CM000675.1:g.32972424G>C	GRCh37
NC_000013.9:g.31870424G>C	NCBI36
NG_012772.3:g.87808G>C , LRG_293:g.87808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*297G>C	ENSP00000434898.2:n.*297G>C
ENST00000528762.2:c.*1141G>C	ENSP00000433168.2:n.*1141G>C
ENST00000530893.7:c.9405G>C	ENSP00000499438.2:p.Glu3135Asp
ENST00000665585.2:c.*1336G>C	ENSP00000499570.2:n.*1336G>C
ENST00000700202.2:c.9723G>C	ENSP00000514856.2:p.Glu3241Asp
ENST00000700202.1:c.2190G>C	ENSP00000514856.1:p.Glu730Asp
ENST00000700203.1:n.1901G>C
ENST00000380152.8:c.9774G>C MANE Select	ENSP00000369497.3:p.Glu3258Asp
ENST00000544455.6:c.9774G>C	ENSP00000439902.1:p.Glu3258Asp
ENST00000614259.2:c.9782G>C	ENSP00000506251.1:n.9782G>C
ENST00000680887.1:c.9774G>C	ENSP00000505508.1:p.Glu3258Asp
ENST00000380152.7:c.9774G>C	ENSP00000369497.3:p.Glu3258Asp
ENST00000533776.1:n.362G>C
ENST00000544455.5:c.9774G>C	ENSP00000439902.1:p.Glu3258Asp
NM_000059.3:c.9774G>C , LRG_293t1:c.9774G>C	NP_000050.2:p.Glu3258Asp
XM_011535203.1:c.9774G>C	XP_011533505.1:p.Glu3258Asp
XM_011535204.1:c.9678G>C	XP_011533506.1:p.Glu3226Asp
NM_000059.4:c.9774G>C MANE Select	NP_000050.3:p.Glu3258Asp