Canonical Allele Identifier: CA10579846

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 230825
• ClinVar RCV Id: RCV000218109
• dbSNP Id: rs876658795
• MyVariant Identifiers: chr13:g.32972445C>G (hg19) ; chr13:g.32398308C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398308C>G , CM000675.2:g.32398308C>G	GRCh38
NC_000013.10:g.32972445C>G , CM000675.1:g.32972445C>G	GRCh37
NC_000013.9:g.31870445C>G	NCBI36
NG_012772.3:g.87829C>G , LRG_293:g.87829C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*318C>G	ENSP00000434898.2:n.*318C>G
ENST00000528762.2:c.*1162C>G	ENSP00000433168.2:n.*1162C>G
ENST00000530893.7:c.9426C>G	ENSP00000499438.2:p.Cys3142Trp
ENST00000665585.2:c.*1357C>G	ENSP00000499570.2:n.*1357C>G
ENST00000700202.2:c.9744C>G	ENSP00000514856.2:p.Cys3248Trp
ENST00000700202.1:c.2211C>G	ENSP00000514856.1:p.Cys737Trp
ENST00000700203.1:n.1922C>G
ENST00000380152.8:c.9795C>G MANE Select	ENSP00000369497.3:p.Cys3265Trp
ENST00000544455.6:c.9795C>G	ENSP00000439902.1:p.Cys3265Trp
ENST00000614259.2:c.9803C>G	ENSP00000506251.1:n.9803C>G
ENST00000680887.1:c.9795C>G	ENSP00000505508.1:p.Cys3265Trp
ENST00000380152.7:c.9795C>G	ENSP00000369497.3:p.Cys3265Trp
ENST00000533776.1:n.383C>G
ENST00000544455.5:c.9795C>G	ENSP00000439902.1:p.Cys3265Trp
NM_000059.3:c.9795C>G , LRG_293t1:c.9795C>G	NP_000050.2:p.Cys3265Trp
XM_011535203.1:c.9795C>G	XP_011533505.1:p.Cys3265Trp
XM_011535204.1:c.9699C>G	XP_011533506.1:p.Cys3233Trp
NM_000059.4:c.9795C>G MANE Select	NP_000050.3:p.Cys3265Trp