Canonical Allele Identifier: CA2739277523

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2811195
• ClinVar RCV Id: RCV003645529

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379355_32379359del , CM000675.2:g.32379355_32379359del	GRCh38
NC_000013.10:g.32953492_32953496del , CM000675.1:g.32953492_32953496del	GRCh37
NC_000013.9:g.31851492_31851496del	NCBI36
NG_012772.3:g.68876_68880del , LRG_293:g.68876_68880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8793_8797del	ENSP00000434898.2:p.Asn2931LysfsTer6
ENST00000528762.2:c.*160_*164del	ENSP00000433168.2:n.*160_*164del
ENST00000530893.7:c.8424_8428del	ENSP00000499438.2:p.Asn2808LysfsTer6
ENST00000665585.2:c.*355_*359del	ENSP00000499570.2:n.*355_*359del
ENST00000666593.2:c.8793_8797del	ENSP00000499256.2:p.Asn2931LysfsTer6
ENST00000700202.2:c.8793_8797del	ENSP00000514856.2:p.Asn2931LysfsTer6
ENST00000700202.1:c.1260_1264del	ENSP00000514856.1:p.Asn420LysfsTer6
ENST00000700203.1:n.920_924del
ENST00000380152.8:c.8793_8797del MANE Select	ENSP00000369497.3:p.Asn2931LysfsTer6
ENST00000544455.6:c.8793_8797del	ENSP00000439902.1:p.Asn2931LysfsTer6
ENST00000614259.2:c.8801_8805del	ENSP00000506251.1:n.8801_8805del
ENST00000665585.1:c.1671_1675del
ENST00000680887.1:c.8793_8797del	ENSP00000505508.1:p.Asn2931LysfsTer6
ENST00000380152.7:c.8793_8797del	ENSP00000369497.3:p.Asn2931LysfsTer6
ENST00000528762.1:c.355_359del	ENSP00000433168.1:n.355_359del
ENST00000544455.5:c.8793_8797del	ENSP00000439902.1:p.Asn2931LysfsTer6
NM_000059.3:c.8793_8797del , LRG_293t1:c.8793_8797del	NP_000050.2:p.Asn2931LysfsTer6
XM_011535203.1:c.8793_8797del	XP_011533505.1:p.Asn2931LysfsTer6
XM_011535204.1:c.8697_8701del	XP_011533506.1:p.Asn2899LysfsTer6
XM_011535205.1:c.8755-395_8755-391del	XP_011533507.1:n.8755-395_8755-391del
NM_000059.4:c.8793_8797del MANE Select	NP_000050.3:p.Asn2931LysfsTer6