Canonical Allele Identifier: CA387761383

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1016003
• ClinVar RCV Id: RCV001314943
• dbSNP Id: rs2073023723
• MyVariant Identifiers: chr13:g.32968973T>G (hg19) ; chr13:g.32394836T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394836T>G , CM000675.2:g.32394836T>G	GRCh38
NC_000013.10:g.32968973T>G , CM000675.1:g.32968973T>G	GRCh37
NC_000013.9:g.31866973T>G	NCBI36
NG_012772.3:g.84357T>G , LRG_293:g.84357T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9404T>G	ENSP00000434898.2:p.Leu3135Arg
ENST00000528762.2:c.*771T>G	ENSP00000433168.2:n.*771T>G
ENST00000530893.7:c.9035T>G	ENSP00000499438.2:p.Leu3012Arg
ENST00000665585.2:c.*966T>G	ENSP00000499570.2:n.*966T>G
ENST00000666593.2:c.*249T>G	ENSP00000499256.2:n.*249T>G
ENST00000700202.2:c.9353T>G	ENSP00000514856.2:p.Leu3118Arg
ENST00000700202.1:c.1820T>G	ENSP00000514856.1:p.Leu607Arg
ENST00000700203.1:n.1531T>G
ENST00000380152.8:c.9404T>G MANE Select	ENSP00000369497.3:p.Leu3135Arg
ENST00000544455.6:c.9404T>G	ENSP00000439902.1:p.Leu3135Arg
ENST00000614259.2:c.9412T>G	ENSP00000506251.1:n.9412T>G
ENST00000665585.1:c.2282T>G
ENST00000666593.1:c.426T>G	ENSP00000499256.1:n.426T>G
ENST00000680887.1:c.9404T>G	ENSP00000505508.1:p.Leu3135Arg
ENST00000380152.7:c.9404T>G	ENSP00000369497.3:p.Leu3135Arg
ENST00000470094.1:c.361T>G
ENST00000544455.5:c.9404T>G	ENSP00000439902.1:p.Leu3135Arg
NM_000059.3:c.9404T>G , LRG_293t1:c.9404T>G	NP_000050.2:p.Leu3135Arg
XM_011535203.1:c.9404T>G	XP_011533505.1:p.Leu3135Arg
XM_011535204.1:c.9308T>G	XP_011533506.1:p.Leu3103Arg
NM_000059.4:c.9404T>G MANE Select	NP_000050.3:p.Leu3135Arg