Canonical Allele Identifier: CA2082829367
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376767T= , CM000675.2:g.32376767T= GRCh38
NC_000013.10:g.32950904T= , CM000675.1:g.32950904T= GRCh37
NC_000013.9:g.31848904T= NCBI36
NG_012772.3:g.66288T= , LRG_293:g.66288T=

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.8730T= MANE Select NP_000050.3:p.Asn2910=
ENST00000380152.8:c.8730T= MANE Select ENSP00000369497.3:p.Asn2910=
NM_000059.3:c.8730T= , LRG_293t1:c.8730T= NP_000050.2:p.Asn2910=
ENST00000380152.7:c.8730T= ENSP00000369497.3:p.Asn2910=
ENST00000470094.2:c.8730T= ENSP00000434898.2:p.Asn2910=
ENST00000528762.1:c.292T= ENSP00000433168.1:n.292T=
ENST00000528762.2:c.*97T= ENSP00000433168.2:n.*97T=
ENST00000530893.7:c.8361T= ENSP00000499438.2:p.Asn2787=
ENST00000544455.5:c.8730T= ENSP00000439902.1:p.Asn2910=
ENST00000544455.6:c.8730T= ENSP00000439902.1:p.Asn2910=
ENST00000614259.2:c.8738T= ENSP00000506251.1:n.8738T=
ENST00000665585.1:c.1608T=
ENST00000665585.2:c.*292T= ENSP00000499570.2:n.*292T=
ENST00000666593.2:c.8730T= ENSP00000499256.2:p.Asn2910=
ENST00000680887.1:c.8730T= ENSP00000505508.1:p.Asn2910=
ENST00000700202.1:c.1197T= ENSP00000514856.1:p.Asn399=
ENST00000700202.2:c.8730T= ENSP00000514856.2:p.Asn2910=
ENST00000700203.1:n.857T=
XM_011535203.1:c.8730T= XP_011533505.1:p.Asn2910=
XM_011535204.1:c.8634T= XP_011533506.1:p.Asn2878=
XM_011535205.1:c.8730T= XP_011533507.1:p.Asn2910=