Canonical Allele Identifier: CA025946

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 182258
• ClinVar RCV Id: RCV000160164 ; RCV000693870 ; RCV001018727
• dbSNP Id: rs1799956
• MyVariant Identifiers: chr13:g.32953990A>G (hg19) ; chr13:g.32379853A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379853A>G , CM000675.2:g.32379853A>G	GRCh38
NC_000013.10:g.32953990A>G , CM000675.1:g.32953990A>G	GRCh37
NC_000013.9:g.31851990A>G	NCBI36
NG_012772.3:g.69374A>G , LRG_293:g.69374A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9057A>G	ENSP00000434898.2:p.Lys3019=
ENST00000528762.2:c.*424A>G	ENSP00000433168.2:n.*424A>G
ENST00000530893.7:c.8688A>G	ENSP00000499438.2:p.Lys2896=
ENST00000665585.2:c.*619A>G	ENSP00000499570.2:n.*619A>G
ENST00000666593.2:c.9057A>G	ENSP00000499256.2:p.Lys3019=
ENST00000700202.2:c.9006A>G	ENSP00000514856.2:p.Lys3002=
ENST00000700202.1:c.1473A>G	ENSP00000514856.1:p.Lys491=
ENST00000700203.1:n.1184A>G
ENST00000380152.8:c.9057A>G MANE Select	ENSP00000369497.3:p.Lys3019=
ENST00000544455.6:c.9057A>G	ENSP00000439902.1:p.Lys3019=
ENST00000614259.2:c.9065A>G	ENSP00000506251.1:n.9065A>G
ENST00000665585.1:c.1935A>G
ENST00000680887.1:c.9057A>G	ENSP00000505508.1:p.Lys3019=
ENST00000380152.7:c.9057A>G	ENSP00000369497.3:p.Lys3019=
ENST00000470094.1:c.14A>G
ENST00000544455.5:c.9057A>G	ENSP00000439902.1:p.Lys3019=
NM_000059.3:c.9057A>G , LRG_293t1:c.9057A>G	NP_000050.2:p.Lys3019=
XM_011535203.1:c.9057A>G	XP_011533505.1:p.Lys3019=
XM_011535204.1:c.8961A>G	XP_011533506.1:p.Lys2987=
NM_000059.4:c.9057A>G MANE Select	NP_000050.3:p.Lys3019=