Canonical Allele Identifier: CA387757455
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379802A>C , CM000675.2:g.32379802A>C GRCh38
NC_000013.10:g.32953939A>C , CM000675.1:g.32953939A>C GRCh37
NC_000013.9:g.31851939A>C NCBI36
NG_012772.3:g.69323A>C , LRG_293:g.69323A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9006A>C ENSP00000434898.2:p.Glu3002Asp
ENST00000528762.2:c.*373A>C ENSP00000433168.2:n.*373A>C
ENST00000530893.7:c.8637A>C ENSP00000499438.2:p.Glu2879Asp
ENST00000665585.2:c.*568A>C ENSP00000499570.2:n.*568A>C
ENST00000666593.2:c.9006A>C ENSP00000499256.2:p.Glu3002Asp
ENST00000700202.2:c.8955A>C ENSP00000514856.2:p.Glu2985Asp
ENST00000700202.1:c.1422A>C ENSP00000514856.1:p.Glu474Asp
ENST00000700203.1:n.1133A>C
ENST00000380152.8:c.9006A>C MANE Select ENSP00000369497.3:p.Glu3002Asp
ENST00000544455.6:c.9006A>C ENSP00000439902.1:p.Glu3002Asp
ENST00000614259.2:c.9014A>C ENSP00000506251.1:n.9014A>C
ENST00000665585.1:c.1884A>C
ENST00000680887.1:c.9006A>C ENSP00000505508.1:p.Glu3002Asp
ENST00000380152.7:c.9006A>C ENSP00000369497.3:p.Glu3002Asp
ENST00000544455.5:c.9006A>C ENSP00000439902.1:p.Glu3002Asp
NM_000059.3:c.9006A>C , LRG_293t1:c.9006A>C NP_000050.2:p.Glu3002Asp
XM_011535203.1:c.9006A>C XP_011533505.1:p.Glu3002Asp
XM_011535204.1:c.8910A>C XP_011533506.1:p.Glu2970Asp
XM_011535205.1:c.*44A>C XP_011533507.1:n.*44A>C
NM_000059.4:c.9006A>C MANE Select NP_000050.3:p.Glu3002Asp