Canonical Allele Identifier: CA387766102

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1023314
• ClinVar RCV Id: RCV001806122 ; RCV001323336
• dbSNP Id: rs80359243
• MyVariant Identifiers: chr13:g.32972456G>T (hg19) ; chr13:g.32398319G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398319G>T , CM000675.2:g.32398319G>T	GRCh38
NC_000013.10:g.32972456G>T , CM000675.1:g.32972456G>T	GRCh37
NC_000013.9:g.31870456G>T	NCBI36
NG_012772.3:g.87840G>T , LRG_293:g.87840G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*329G>T	ENSP00000434898.2:n.*329G>T
ENST00000528762.2:c.*1173G>T	ENSP00000433168.2:n.*1173G>T
ENST00000530893.7:c.9437G>T	ENSP00000499438.2:p.Arg3146Ile
ENST00000665585.2:c.*1368G>T	ENSP00000499570.2:n.*1368G>T
ENST00000700202.2:c.9755G>T	ENSP00000514856.2:p.Arg3252Ile
ENST00000700202.1:c.2222G>T	ENSP00000514856.1:p.Arg741Ile
ENST00000700203.1:n.1933G>T
ENST00000380152.8:c.9806G>T MANE Select	ENSP00000369497.3:p.Arg3269Ile
ENST00000544455.6:c.9806G>T	ENSP00000439902.1:p.Arg3269Ile
ENST00000614259.2:c.9814G>T	ENSP00000506251.1:n.9814G>T
ENST00000680887.1:c.9806G>T	ENSP00000505508.1:p.Arg3269Ile
ENST00000380152.7:c.9806G>T	ENSP00000369497.3:p.Arg3269Ile
ENST00000533776.1:n.394G>T
ENST00000544455.5:c.9806G>T	ENSP00000439902.1:p.Arg3269Ile
NM_000059.3:c.9806G>T , LRG_293t1:c.9806G>T	NP_000050.2:p.Arg3269Ile
XM_011535203.1:c.9806G>T	XP_011533505.1:p.Arg3269Ile
XM_011535204.1:c.9710G>T	XP_011533506.1:p.Arg3237Ile
NM_000059.4:c.9806G>T MANE Select	NP_000050.3:p.Arg3269Ile