Canonical Allele Identifier: CA483261843

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1764544
• ClinVar RCV Id: RCV002373561
• MyVariant Identifiers: chr13:g.32950925T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376788T>G , CM000675.2:g.32376788T>G	GRCh38
NC_000013.10:g.32950925T>G , CM000675.1:g.32950925T>G	GRCh37
NC_000013.9:g.31848925T>G	NCBI36
NG_012772.3:g.66309T>G , LRG_293:g.66309T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8751T>G	ENSP00000434898.2:p.Leu2917=
ENST00000528762.2:c.*118T>G	ENSP00000433168.2:n.*118T>G
ENST00000530893.7:c.8382T>G	ENSP00000499438.2:p.Leu2794=
ENST00000665585.2:c.*313T>G	ENSP00000499570.2:n.*313T>G
ENST00000666593.2:c.8751T>G	ENSP00000499256.2:p.Leu2917=
ENST00000700202.2:c.8751T>G	ENSP00000514856.2:p.Leu2917=
ENST00000700202.1:c.1218T>G	ENSP00000514856.1:p.Leu406=
ENST00000700203.1:n.878T>G
ENST00000380152.8:c.8751T>G MANE Select	ENSP00000369497.3:p.Leu2917=
ENST00000544455.6:c.8751T>G	ENSP00000439902.1:p.Leu2917=
ENST00000614259.2:c.8759T>G	ENSP00000506251.1:n.8759T>G
ENST00000665585.1:c.1629T>G
ENST00000680887.1:c.8751T>G	ENSP00000505508.1:p.Leu2917=
ENST00000380152.7:c.8751T>G	ENSP00000369497.3:p.Leu2917=
ENST00000528762.1:c.313T>G	ENSP00000433168.1:n.313T>G
ENST00000544455.5:c.8751T>G	ENSP00000439902.1:p.Leu2917=
NM_000059.3:c.8751T>G , LRG_293t1:c.8751T>G	NP_000050.2:p.Leu2917=
XM_011535203.1:c.8751T>G	XP_011533505.1:p.Leu2917=
XM_011535204.1:c.8655T>G	XP_011533506.1:p.Leu2885=
XM_011535205.1:c.8751T>G	XP_011533507.1:p.Leu2917=
NM_000059.4:c.8751T>G MANE Select	NP_000050.3:p.Leu2917=