Canonical Allele Identifier: CA387768174

Gene: BRCA2

Linked Data

• dbSNP Id: rs80358398
• MyVariant Identifiers: chr13:g.32972804G>C (hg19) ; chr13:g.32398667G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398667G>C , CM000675.2:g.32398667G>C	GRCh38
NC_000013.10:g.32972804G>C , CM000675.1:g.32972804G>C	GRCh37
NC_000013.9:g.31870804G>C	NCBI36
NG_012772.3:g.88188G>C , LRG_293:g.88188G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*677G>C	ENSP00000434898.2:n.*677G>C
ENST00000528762.2:c.*1521G>C	ENSP00000433168.2:n.*1521G>C
ENST00000530893.7:c.9785G>C	ENSP00000499438.2:p.Arg3262Pro
ENST00000665585.2:c.*1716G>C	ENSP00000499570.2:n.*1716G>C
ENST00000700202.2:c.10103G>C	ENSP00000514856.2:p.Arg3368Pro
ENST00000700202.1:c.2570G>C	ENSP00000514856.1:p.Arg857Pro
ENST00000700203.1:n.2281G>C
ENST00000380152.8:c.10154G>C MANE Select	ENSP00000369497.3:p.Arg3385Pro
ENST00000544455.6:c.10154G>C	ENSP00000439902.1:p.Arg3385Pro
ENST00000614259.2:c.10162G>C	ENSP00000506251.1:n.10162G>C
ENST00000680887.1:c.10154G>C	ENSP00000505508.1:p.Arg3385Pro
ENST00000380152.7:c.10154G>C	ENSP00000369497.3:p.Arg3385Pro
ENST00000544455.5:c.10154G>C	ENSP00000439902.1:p.Arg3385Pro
NM_000059.3:c.10154G>C , LRG_293t1:c.10154G>C	NP_000050.2:p.Arg3385Pro
XM_011535203.1:c.10154G>C	XP_011533505.1:p.Arg3385Pro
XM_011535204.1:c.10058G>C	XP_011533506.1:p.Arg3353Pro
NM_000059.4:c.10154G>C MANE Select	NP_000050.3:p.Arg3385Pro