Canonical Allele Identifier: CA483439917

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972337T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398200T>G , CM000675.2:g.32398200T>G	GRCh38
NC_000013.10:g.32972337T>G , CM000675.1:g.32972337T>G	GRCh37
NC_000013.9:g.31870337T>G	NCBI36
NG_012772.3:g.87721T>G , LRG_293:g.87721T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*210T>G	ENSP00000434898.2:n.*210T>G
ENST00000528762.2:c.*1054T>G	ENSP00000433168.2:n.*1054T>G
ENST00000530893.7:c.9318T>G	ENSP00000499438.2:p.Pro3106=
ENST00000665585.2:c.*1249T>G	ENSP00000499570.2:n.*1249T>G
ENST00000700202.2:c.9636T>G	ENSP00000514856.2:p.Pro3212=
ENST00000700202.1:c.2103T>G	ENSP00000514856.1:p.Pro701=
ENST00000700203.1:n.1814T>G
ENST00000380152.8:c.9687T>G MANE Select	ENSP00000369497.3:p.Pro3229=
ENST00000544455.6:c.9687T>G	ENSP00000439902.1:p.Pro3229=
ENST00000614259.2:c.9695T>G	ENSP00000506251.1:n.9695T>G
ENST00000665585.1:c.2565T>G
ENST00000680887.1:c.9687T>G	ENSP00000505508.1:p.Pro3229=
ENST00000380152.7:c.9687T>G	ENSP00000369497.3:p.Pro3229=
ENST00000470094.1:c.770T>G
ENST00000533776.1:n.275T>G
ENST00000544455.5:c.9687T>G	ENSP00000439902.1:p.Pro3229=
NM_000059.3:c.9687T>G , LRG_293t1:c.9687T>G	NP_000050.2:p.Pro3229=
XM_011535203.1:c.9687T>G	XP_011533505.1:p.Pro3229=
XM_011535204.1:c.9591T>G	XP_011533506.1:p.Pro3197=
NM_000059.4:c.9687T>G MANE Select	NP_000050.3:p.Pro3229=