Canonical Allele Identifier: CA483439946

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972379T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398242T>G , CM000675.2:g.32398242T>G	GRCh38
NC_000013.10:g.32972379T>G , CM000675.1:g.32972379T>G	GRCh37
NC_000013.9:g.31870379T>G	NCBI36
NG_012772.3:g.87763T>G , LRG_293:g.87763T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*252T>G	ENSP00000434898.2:n.*252T>G
ENST00000528762.2:c.*1096T>G	ENSP00000433168.2:n.*1096T>G
ENST00000530893.7:c.9360T>G	ENSP00000499438.2:p.Pro3120=
ENST00000665585.2:c.*1291T>G	ENSP00000499570.2:n.*1291T>G
ENST00000700202.2:c.9678T>G	ENSP00000514856.2:p.Pro3226=
ENST00000700202.1:c.2145T>G	ENSP00000514856.1:p.Pro715=
ENST00000700203.1:n.1856T>G
ENST00000380152.8:c.9729T>G MANE Select	ENSP00000369497.3:p.Pro3243=
ENST00000544455.6:c.9729T>G	ENSP00000439902.1:p.Pro3243=
ENST00000614259.2:c.9737T>G	ENSP00000506251.1:n.9737T>G
ENST00000680887.1:c.9729T>G	ENSP00000505508.1:p.Pro3243=
ENST00000380152.7:c.9729T>G	ENSP00000369497.3:p.Pro3243=
ENST00000470094.1:c.812T>G
ENST00000533776.1:n.317T>G
ENST00000544455.5:c.9729T>G	ENSP00000439902.1:p.Pro3243=
NM_000059.3:c.9729T>G , LRG_293t1:c.9729T>G	NP_000050.2:p.Pro3243=
XM_011535203.1:c.9729T>G	XP_011533505.1:p.Pro3243=
XM_011535204.1:c.9633T>G	XP_011533506.1:p.Pro3211=
NM_000059.4:c.9729T>G MANE Select	NP_000050.3:p.Pro3243=