Canonical Allele Identifier: CA2837995281
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32356494_32356498dup , CM000675.2:g.32356494_32356498dup GRCh38
NC_000013.10:g.32930631_32930635dup , CM000675.1:g.32930631_32930635dup GRCh37
NC_000013.9:g.31828631_31828635dup NCBI36
NG_012772.3:g.46015_46019dup , LRG_293:g.46015_46019dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7502_7506dup ENSP00000434898.2:p.Val2503AsnfsTer23
ENST00000528762.2:c.7502_7506dup ENSP00000433168.2:p.Val2503AsnfsTer23
ENST00000530893.7:c.7133_7137dup ENSP00000499438.2:p.Val2380AsnfsTer23
ENST00000665585.2:c.7502_7506dup ENSP00000499570.2:p.Val2503AsnfsTer23
ENST00000666593.2:c.7502_7506dup ENSP00000499256.2:p.Val2503AsnfsTer23
ENST00000700202.2:c.7502_7506dup ENSP00000514856.2:p.Val2503AsnfsTer23
ENST00000380152.8:c.7502_7506dup MANE Select ENSP00000369497.3:p.Val2503AsnfsTer23
ENST00000544455.6:c.7502_7506dup ENSP00000439902.1:p.Val2503AsnfsTer23
ENST00000614259.2:c.7502_7506dup ENSP00000506251.1:p.Val2503AsnfsTer23
ENST00000665585.1:c.67_71dup
ENST00000680887.1:c.7502_7506dup ENSP00000505508.1:p.Val2503AsnfsTer23
ENST00000380152.7:c.7502_7506dup ENSP00000369497.3:p.Val2503AsnfsTer23
ENST00000544455.5:c.7502_7506dup ENSP00000439902.1:p.Val2503AsnfsTer23
ENST00000614259.1:n.7502_7506dup
NM_000059.3:c.7502_7506dup , LRG_293t1:c.7502_7506dup NP_000050.2:p.Val2503AsnfsTer23
XM_011535203.1:c.7502_7506dup XP_011533505.1:p.Val2503AsnfsTer23
XM_011535204.1:c.7406_7410dup XP_011533506.1:p.Val2471AsnfsTer23
XM_011535205.1:c.7502_7506dup XP_011533507.1:p.Val2503AsnfsTer23
NM_000059.4:c.7502_7506dup MANE Select NP_000050.3:p.Val2503AsnfsTer23