Canonical Allele Identifier: CA3200709088
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379856T= , CM000675.2:g.32379856T= GRCh38
NC_000013.10:g.32953993T= , CM000675.1:g.32953993T= GRCh37
NC_000013.9:g.31851993T= NCBI36
NG_012772.3:g.69377T= , LRG_293:g.69377T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9060T= ENSP00000434898.2:p.Ser3020=
ENST00000528762.2:c.*427T= ENSP00000433168.2:n.*427T=
ENST00000530893.7:c.8691T= ENSP00000499438.2:p.Ser2897=
ENST00000665585.2:c.*622T= ENSP00000499570.2:n.*622T=
ENST00000666593.2:c.9060T= ENSP00000499256.2:p.Ser3020=
ENST00000700202.2:c.9009T= ENSP00000514856.2:p.Ser3003=
ENST00000700202.1:c.1476T= ENSP00000514856.1:p.Ser492=
ENST00000700203.1:n.1187T=
ENST00000380152.8:c.9060T= MANE Select ENSP00000369497.3:p.Ser3020=
ENST00000544455.6:c.9060T= ENSP00000439902.1:p.Ser3020=
ENST00000614259.2:c.9068T= ENSP00000506251.1:n.9068T=
ENST00000665585.1:c.1938T=
ENST00000680887.1:c.9060T= ENSP00000505508.1:p.Ser3020=
ENST00000380152.7:c.9060T= ENSP00000369497.3:p.Ser3020=
ENST00000470094.1:c.17T=
ENST00000544455.5:c.9060T= ENSP00000439902.1:p.Ser3020=
NM_000059.3:c.9060T= , LRG_293t1:c.9060T= NP_000050.2:p.Ser3020=
XM_011535203.1:c.9060T= XP_011533505.1:p.Ser3020=
XM_011535204.1:c.8964T= XP_011533506.1:p.Ser2988=
NM_000059.4:c.9060T= MANE Select NP_000050.3:p.Ser3020=