Canonical Allele Identifier: CA913190916

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 617768
• ClinVar RCV Id: RCV000755022
• dbSNP Id: rs1566252592

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379370del , CM000675.2:g.32379370del	GRCh38
NC_000013.10:g.32953507del , CM000675.1:g.32953507del	GRCh37
NC_000013.9:g.31851507del	NCBI36
NG_012772.3:g.68891del , LRG_293:g.68891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8808del	ENSP00000434898.2:p.Asn2937MetfsTer?
ENST00000528762.2:c.*175del	ENSP00000433168.2:n.*175del
ENST00000530893.7:c.8439del	ENSP00000499438.2:p.Asn2814MetfsTer?
ENST00000665585.2:c.*370del	ENSP00000499570.2:n.*370del
ENST00000666593.2:c.8808del	ENSP00000499256.2:p.Asn2937MetfsTer?
ENST00000700202.2:c.8808del	ENSP00000514856.2:p.Asn2937MetfsTer?
ENST00000700202.1:c.1275del	ENSP00000514856.1:p.Asn426MetfsTer?
ENST00000700203.1:n.935del
ENST00000380152.8:c.8808del MANE Select	ENSP00000369497.3:p.Asn2937MetfsTer?
ENST00000544455.6:c.8808del	ENSP00000439902.1:p.Asn2937MetfsTer?
ENST00000614259.2:c.8816del	ENSP00000506251.1:n.8816del
ENST00000665585.1:c.1686del
ENST00000680887.1:c.8808del	ENSP00000505508.1:p.Asn2937MetfsTer?
ENST00000380152.7:c.8808del	ENSP00000369497.3:p.Asn2937MetfsTer?
ENST00000528762.1:c.370del	ENSP00000433168.1:n.370del
ENST00000544455.5:c.8808del	ENSP00000439902.1:p.Asn2937MetfsTer?
NM_000059.3:c.8808del , LRG_293t1:c.8808del	NP_000050.2:p.Asn2937MetfsTer?
XM_011535203.1:c.8808del	XP_011533505.1:p.Asn2937MetfsTer?
XM_011535204.1:c.8712del	XP_011533506.1:p.Asn2905MetfsTer?
XM_011535205.1:c.8755-380del	XP_011533507.1:n.8755-380del
NM_000059.4:c.8808del MANE Select	NP_000050.3:p.Asn2937MetfsTer?