Canonical Allele Identifier: CA019222

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51566
• ClinVar RCV Id: RCV000257715
• dbSNP Id: rs397507700
• MyVariant Identifiers: chr13:g.32912428_32912446del (hg19) ; chr13:g.32338291_32338309del (hg38)
• PubMed: PMID:12845657

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338291_32338309del , CM000675.2:g.32338291_32338309del	GRCh38
NC_000013.10:g.32912428_32912446del , CM000675.1:g.32912428_32912446del	GRCh37
NC_000013.9:g.31810428_31810446del	NCBI36
NG_012772.3:g.27812_27830del , LRG_293:g.27812_27830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3936_3954del	ENSP00000434898.2:p.Asn1312LysfsTer17
ENST00000528762.2:c.3936_3954del	ENSP00000433168.2:p.Asn1312LysfsTer17
ENST00000530893.7:c.3567_3585del	ENSP00000499438.2:p.Asn1189LysfsTer17
ENST00000665585.2:c.3936_3954del	ENSP00000499570.2:p.Asn1312LysfsTer17
ENST00000666593.2:c.3936_3954del	ENSP00000499256.2:p.Asn1312LysfsTer17
ENST00000700202.2:c.3936_3954del	ENSP00000514856.2:p.Asn1312LysfsTer17
ENST00000380152.8:c.3936_3954del MANE Select	ENSP00000369497.3:p.Asn1312LysfsTer17
ENST00000544455.6:c.3936_3954del	ENSP00000439902.1:p.Asn1312LysfsTer17
ENST00000614259.2:c.3936_3954del	ENSP00000506251.1:p.Asn1312LysfsTer17
ENST00000680887.1:c.3936_3954del	ENSP00000505508.1:p.Asn1312LysfsTer17
ENST00000380152.7:c.3936_3954del	ENSP00000369497.3:p.Asn1312LysfsTer17
ENST00000544455.5:c.3936_3954del	ENSP00000439902.1:p.Asn1312LysfsTer17
ENST00000614259.1:n.3936_3954del
NM_000059.3:c.3936_3954del , LRG_293t1:c.3936_3954del	NP_000050.2:p.Asn1312LysfsTer17
XM_011535203.1:c.3936_3954del	XP_011533505.1:p.Asn1312LysfsTer17
XM_011535204.1:c.3936_3954del	XP_011533506.1:p.Asn1312LysfsTer17
XM_011535205.1:c.3936_3954del	XP_011533507.1:p.Asn1312LysfsTer17
NM_000059.4:c.3936_3954del MANE Select	NP_000050.3:p.Asn1312LysfsTer17