Canonical Allele Identifier: CA026114

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52819
• ClinVar RCV Id: RCV000114094 ; RCV002371880 ; RCV002513649 ; RCV003473432
• dbSNP Id: rs80359207
• MyVariant Identifiers: chr13:g.32968925T>G (hg19) ; chr13:g.32394788T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394788T>G , CM000675.2:g.32394788T>G	GRCh38
NC_000013.10:g.32968925T>G , CM000675.1:g.32968925T>G	GRCh37
NC_000013.9:g.31866925T>G	NCBI36
NG_012772.3:g.84309T>G , LRG_293:g.84309T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9356T>G	ENSP00000434898.2:p.Leu3119Ter
ENST00000528762.2:c.*723T>G	ENSP00000433168.2:n.*723T>G
ENST00000530893.7:c.8987T>G	ENSP00000499438.2:p.Leu2996Ter
ENST00000665585.2:c.*918T>G	ENSP00000499570.2:n.*918T>G
ENST00000666593.2:c.*201T>G	ENSP00000499256.2:n.*201T>G
ENST00000700202.2:c.9305T>G	ENSP00000514856.2:p.Leu3102Ter
ENST00000700202.1:c.1772T>G	ENSP00000514856.1:p.Leu591Ter
ENST00000700203.1:n.1483T>G
ENST00000380152.8:c.9356T>G MANE Select	ENSP00000369497.3:p.Leu3119Ter
ENST00000544455.6:c.9356T>G	ENSP00000439902.1:p.Leu3119Ter
ENST00000614259.2:c.9364T>G	ENSP00000506251.1:n.9364T>G
ENST00000665585.1:c.2234T>G
ENST00000666593.1:c.378T>G	ENSP00000499256.1:n.378T>G
ENST00000680887.1:c.9356T>G	ENSP00000505508.1:p.Leu3119Ter
ENST00000380152.7:c.9356T>G	ENSP00000369497.3:p.Leu3119Ter
ENST00000470094.1:c.313T>G
ENST00000544455.5:c.9356T>G	ENSP00000439902.1:p.Leu3119Ter
NM_000059.3:c.9356T>G , LRG_293t1:c.9356T>G	NP_000050.2:p.Leu3119Ter
XM_011535203.1:c.9356T>G	XP_011533505.1:p.Leu3119Ter
XM_011535204.1:c.9260T>G	XP_011533506.1:p.Leu3087Ter
NM_000059.4:c.9356T>G MANE Select	NP_000050.3:p.Leu3119Ter