Canonical Allele Identifier: CA16614398

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 409512
• ClinVar RCV Id: RCV000461281 ; RCV000757042 ; RCV002374783
• dbSNP Id: rs1060502443
• MyVariant Identifiers: chr13:g.32968853A>G (hg19) ; chr13:g.32394716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394716A>G , CM000675.2:g.32394716A>G	GRCh38
NC_000013.10:g.32968853A>G , CM000675.1:g.32968853A>G	GRCh37
NC_000013.9:g.31866853A>G	NCBI36
NG_012772.3:g.84237A>G , LRG_293:g.84237A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9284A>G	ENSP00000434898.2:p.Asp3095Gly
ENST00000528762.2:c.*651A>G	ENSP00000433168.2:n.*651A>G
ENST00000530893.7:c.8915A>G	ENSP00000499438.2:p.Asp2972Gly
ENST00000665585.2:c.*846A>G	ENSP00000499570.2:n.*846A>G
ENST00000666593.2:c.*129A>G	ENSP00000499256.2:n.*129A>G
ENST00000700202.2:c.9233A>G	ENSP00000514856.2:p.Asp3078Gly
ENST00000700202.1:c.1700A>G	ENSP00000514856.1:p.Asp567Gly
ENST00000700203.1:n.1411A>G
ENST00000380152.8:c.9284A>G MANE Select	ENSP00000369497.3:p.Asp3095Gly
ENST00000544455.6:c.9284A>G	ENSP00000439902.1:p.Asp3095Gly
ENST00000614259.2:c.9292A>G	ENSP00000506251.1:n.9292A>G
ENST00000665585.1:c.2162A>G
ENST00000666593.1:c.306A>G	ENSP00000499256.1:n.306A>G
ENST00000680887.1:c.9284A>G	ENSP00000505508.1:p.Asp3095Gly
ENST00000380152.7:c.9284A>G	ENSP00000369497.3:p.Asp3095Gly
ENST00000470094.1:c.241A>G
ENST00000544455.5:c.9284A>G	ENSP00000439902.1:p.Asp3095Gly
NM_000059.3:c.9284A>G , LRG_293t1:c.9284A>G	NP_000050.2:p.Asp3095Gly
XM_011535203.1:c.9284A>G	XP_011533505.1:p.Asp3095Gly
XM_011535204.1:c.9188A>G	XP_011533506.1:p.Asp3063Gly
NM_000059.4:c.9284A>G MANE Select	NP_000050.3:p.Asp3095Gly