Canonical Allele Identifier: CA10589033

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266890
• ClinVar RCV Id: RCV000257863 ; RCV001800639 ; RCV002347980
• dbSNP Id: rs886040605
• MyVariant Identifiers: chr13:g.32900687_32900694del (hg19) ; chr13:g.32326550_32326557del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326550_32326557del , CM000675.2:g.32326550_32326557del	GRCh38
NC_000013.10:g.32900687_32900694del , CM000675.1:g.32900687_32900694del	GRCh37
NC_000013.9:g.31798687_31798694del	NCBI36
NG_012772.3:g.16071_16078del , LRG_293:g.16071_16078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.568_575del	ENSP00000434898.2:p.Pro190ValfsTer13
ENST00000528762.2:c.568_575del	ENSP00000433168.2:p.Pro190ValfsTer13
ENST00000530893.7:c.199_206del	ENSP00000499438.2:p.Pro67ValfsTer13
ENST00000665585.2:c.568_575del	ENSP00000499570.2:p.Pro190ValfsTer13
ENST00000666593.2:c.568_575del	ENSP00000499256.2:p.Pro190ValfsTer13
ENST00000700202.2:c.568_575del	ENSP00000514856.2:p.Pro190ValfsTer13
ENST00000700200.1:n.439_446del
ENST00000700201.1:c.*347_*354del	ENSP00000514855.1:n.*347_*354del
ENST00000380152.8:c.568_575del MANE Select	ENSP00000369497.3:p.Pro190ValfsTer13
ENST00000544455.6:c.568_575del	ENSP00000439902.1:p.Pro190ValfsTer13
ENST00000614259.2:c.568_575del	ENSP00000506251.1:p.Pro190ValfsTer13
ENST00000680887.1:c.568_575del	ENSP00000505508.1:p.Pro190ValfsTer13
ENST00000380152.7:c.568_575del	ENSP00000369497.3:p.Pro190ValfsTer13
ENST00000530893.6:n.766_773del
ENST00000544455.5:c.568_575del	ENSP00000439902.1:p.Pro190ValfsTer13
ENST00000614259.1:n.568_575del
NM_000059.3:c.568_575del , LRG_293t1:c.568_575del	NP_000050.2:p.Pro190ValfsTer13
XM_011535203.1:c.568_575del	XP_011533505.1:p.Pro190ValfsTer13
XM_011535204.1:c.568_575del	XP_011533506.1:p.Pro190ValfsTer13
XM_011535205.1:c.568_575del	XP_011533507.1:p.Pro190ValfsTer13
NM_000059.4:c.568_575del MANE Select	NP_000050.3:p.Pro190ValfsTer13