Canonical Allele Identifier: CA387758491

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32954250T>G (hg19) ; chr13:g.32380113T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380113T>G , CM000675.2:g.32380113T>G	GRCh38
NC_000013.10:g.32954250T>G , CM000675.1:g.32954250T>G	GRCh37
NC_000013.9:g.31852250T>G	NCBI36
NG_012772.3:g.69634T>G , LRG_293:g.69634T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9224T>G	ENSP00000434898.2:p.Ile3075Arg
ENST00000528762.2:c.*591T>G	ENSP00000433168.2:n.*591T>G
ENST00000530893.7:c.8855T>G	ENSP00000499438.2:p.Ile2952Arg
ENST00000665585.2:c.*786T>G	ENSP00000499570.2:n.*786T>G
ENST00000666593.2:c.9224T>G	ENSP00000499256.2:p.Ile3075Arg
ENST00000700202.2:c.9173T>G	ENSP00000514856.2:p.Ile3058Arg
ENST00000700202.1:c.1640T>G	ENSP00000514856.1:p.Ile547Arg
ENST00000700203.1:n.1351T>G
ENST00000380152.8:c.9224T>G MANE Select	ENSP00000369497.3:p.Ile3075Arg
ENST00000544455.6:c.9224T>G	ENSP00000439902.1:p.Ile3075Arg
ENST00000614259.2:c.9232T>G	ENSP00000506251.1:n.9232T>G
ENST00000665585.1:c.2102T>G
ENST00000666593.1:c.107T>G	ENSP00000499256.1:p.Ile36Arg
ENST00000680887.1:c.9224T>G	ENSP00000505508.1:p.Ile3075Arg
ENST00000380152.7:c.9224T>G	ENSP00000369497.3:p.Ile3075Arg
ENST00000470094.1:c.181T>G
ENST00000544455.5:c.9224T>G	ENSP00000439902.1:p.Ile3075Arg
NM_000059.3:c.9224T>G , LRG_293t1:c.9224T>G	NP_000050.2:p.Ile3075Arg
XM_011535203.1:c.9224T>G	XP_011533505.1:p.Ile3075Arg
XM_011535204.1:c.9128T>G	XP_011533506.1:p.Ile3043Arg
NM_000059.4:c.9224T>G MANE Select	NP_000050.3:p.Ile3075Arg