Canonical Allele Identifier: CA483439955

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972397T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398260T>G , CM000675.2:g.32398260T>G	GRCh38
NC_000013.10:g.32972397T>G , CM000675.1:g.32972397T>G	GRCh37
NC_000013.9:g.31870397T>G	NCBI36
NG_012772.3:g.87781T>G , LRG_293:g.87781T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*270T>G	ENSP00000434898.2:n.*270T>G
ENST00000528762.2:c.*1114T>G	ENSP00000433168.2:n.*1114T>G
ENST00000530893.7:c.9378T>G	ENSP00000499438.2:p.Thr3126=
ENST00000665585.2:c.*1309T>G	ENSP00000499570.2:n.*1309T>G
ENST00000700202.2:c.9696T>G	ENSP00000514856.2:p.Thr3232=
ENST00000700202.1:c.2163T>G	ENSP00000514856.1:p.Thr721=
ENST00000700203.1:n.1874T>G
ENST00000380152.8:c.9747T>G MANE Select	ENSP00000369497.3:p.Thr3249=
ENST00000544455.6:c.9747T>G	ENSP00000439902.1:p.Thr3249=
ENST00000614259.2:c.9755T>G	ENSP00000506251.1:n.9755T>G
ENST00000680887.1:c.9747T>G	ENSP00000505508.1:p.Thr3249=
ENST00000380152.7:c.9747T>G	ENSP00000369497.3:p.Thr3249=
ENST00000470094.1:c.830T>G
ENST00000533776.1:n.335T>G
ENST00000544455.5:c.9747T>G	ENSP00000439902.1:p.Thr3249=
NM_000059.3:c.9747T>G , LRG_293t1:c.9747T>G	NP_000050.2:p.Thr3249=
XM_011535203.1:c.9747T>G	XP_011533505.1:p.Thr3249=
XM_011535204.1:c.9651T>G	XP_011533506.1:p.Thr3217=
NM_000059.4:c.9747T>G MANE Select	NP_000050.3:p.Thr3249=