Canonical Allele Identifier: CA025795

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52663
• ClinVar RCV Id: RCV000257406 ; RCV003321491 ; RCV004017343
• dbSNP Id: rs397508004
• MyVariant Identifiers: chr13:g.32950904del (hg19) ; chr13:g.32376767del (hg38)
• PubMed: PMID:20104584

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376767del , CM000675.2:g.32376767del	GRCh38
NC_000013.10:g.32950904del , CM000675.1:g.32950904del	GRCh37
NC_000013.9:g.31848904del	NCBI36
NG_012772.3:g.66288del , LRG_293:g.66288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8730del	ENSP00000434898.2:p.Asn2910LysfsTer17
ENST00000528762.2:c.*97del	ENSP00000433168.2:n.*97del
ENST00000530893.7:c.8361del	ENSP00000499438.2:p.Asn2787LysfsTer17
ENST00000665585.2:c.*292del	ENSP00000499570.2:n.*292del
ENST00000666593.2:c.8730del	ENSP00000499256.2:p.Asn2910LysfsTer17
ENST00000700202.2:c.8730del	ENSP00000514856.2:p.Asn2910LysfsTer17
ENST00000700202.1:c.1197del	ENSP00000514856.1:p.Asn399LysfsTer17
ENST00000700203.1:n.857del
ENST00000380152.8:c.8730del MANE Select	ENSP00000369497.3:p.Asn2910LysfsTer17
ENST00000544455.6:c.8730del	ENSP00000439902.1:p.Asn2910LysfsTer17
ENST00000614259.2:c.8738del	ENSP00000506251.1:n.8738del
ENST00000665585.1:c.1608del
ENST00000680887.1:c.8730del	ENSP00000505508.1:p.Asn2910LysfsTer17
ENST00000380152.7:c.8730del	ENSP00000369497.3:p.Asn2910LysfsTer17
ENST00000528762.1:c.292del	ENSP00000433168.1:n.292del
ENST00000544455.5:c.8730del	ENSP00000439902.1:p.Asn2910LysfsTer17
NM_000059.3:c.8730del , LRG_293t1:c.8730del	NP_000050.2:p.Asn2910LysfsTer17
XM_011535203.1:c.8730del	XP_011533505.1:p.Asn2910LysfsTer17
XM_011535204.1:c.8634del	XP_011533506.1:p.Asn2878LysfsTer17
XM_011535205.1:c.8730del	XP_011533507.1:p.Asn2910LysfsTer?
NM_000059.4:c.8730del MANE Select	NP_000050.3:p.Asn2910LysfsTer17