Canonical Allele Identifier: CA2501501461

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32357793_32357794insTATCACACAATAAAAACAATTATAACAAA , CM000675.2:g.32357793_32357794insTATCACACAATAAAAACAATTATAACAAA	GRCh38
NC_000013.10:g.32931930_32931931insTATCACACAATAAAAACAATTATAACAAA , CM000675.1:g.32931930_32931931insTATCACACAATAAAAACAATTATAACAAA	GRCh37
NC_000013.9:g.31829930_31829931insTATCACACAATAAAAACAATTATAACAAA	NCBI36
NG_012772.3:g.47314_47315insTATCACACAATAAAAACAATTATAACAAA , LRG_293:g.47314_47315insTATCACACAATAAAAACAATTATAACAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	ENSP00000434898.2:p.Ala2557ValfsTer?
ENST00000528762.2:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	ENSP00000433168.2:p.Ala2557ValfsTer?
ENST00000530893.7:c.7300_7301insTATCACACAATAAAAACAATTATAACAAA	ENSP00000499438.2:p.Ala2434ValfsTer?
ENST00000665585.2:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	ENSP00000499570.2:p.Ala2557ValfsTer?
ENST00000666593.2:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	ENSP00000499256.2:p.Ala2557ValfsTer?
ENST00000700202.2:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	ENSP00000514856.2:p.Ala2557ValfsTer?
ENST00000700202.1:c.136_137insTATCACACAATAAAAACAATTATAACAAA	ENSP00000514856.1:p.Ala46ValfsTer?
ENST00000380152.8:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA MANE Select	ENSP00000369497.3:p.Ala2557ValfsTer?
ENST00000544455.6:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	ENSP00000439902.1:p.Ala2557ValfsTer?
ENST00000614259.2:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	ENSP00000506251.1:p.Ala2557ValfsTer?
ENST00000665585.1:c.234_235insTATCACACAATAAAAACAATTATAACAAA
ENST00000680887.1:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	ENSP00000505508.1:p.Ala2557ValfsTer?
ENST00000380152.7:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	ENSP00000369497.3:p.Ala2557ValfsTer?
ENST00000544455.5:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	ENSP00000439902.1:p.Ala2557ValfsTer?
ENST00000614259.1:n.7669_7670insTATCACACAATAAAAACAATTATAACAAA
NM_000059.3:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA , LRG_293t1:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	NP_000050.2:p.Ala2557ValfsTer?
XM_011535203.1:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	XP_011533505.1:p.Ala2557ValfsTer?
XM_011535204.1:c.7573_7574insTATCACACAATAAAAACAATTATAACAAA	XP_011533506.1:p.Ala2525ValfsTer?
XM_011535205.1:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA	XP_011533507.1:p.Ala2557ValfsTer?
NM_000059.4:c.7669_7670insTATCACACAATAAAAACAATTATAACAAA MANE Select	NP_000050.3:p.Ala2557ValfsTer?