Canonical Allele Identifier: CA2082836444
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379481T= , CM000675.2:g.32379481T= GRCh38
NC_000013.10:g.32953618T= , CM000675.1:g.32953618T= GRCh37
NC_000013.9:g.31851618T= NCBI36
NG_012772.3:g.69002T= , LRG_293:g.69002T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8919T= ENSP00000434898.2:p.Arg2973=
ENST00000528762.2:c.*286T= ENSP00000433168.2:n.*286T=
ENST00000530893.7:c.8550T= ENSP00000499438.2:p.Arg2850=
ENST00000665585.2:c.*481T= ENSP00000499570.2:n.*481T=
ENST00000666593.2:c.8919T= ENSP00000499256.2:p.Arg2973=
ENST00000700202.2:c.8919T= ENSP00000514856.2:p.Arg2973=
ENST00000700202.1:c.1386T= ENSP00000514856.1:p.Arg462=
ENST00000700203.1:n.1046T=
ENST00000380152.8:c.8919T= MANE Select ENSP00000369497.3:p.Arg2973=
ENST00000544455.6:c.8919T= ENSP00000439902.1:p.Arg2973=
ENST00000614259.2:c.8927T= ENSP00000506251.1:n.8927T=
ENST00000665585.1:c.1797T=
ENST00000680887.1:c.8919T= ENSP00000505508.1:p.Arg2973=
ENST00000380152.7:c.8919T= ENSP00000369497.3:p.Arg2973=
ENST00000528762.1:c.481T= ENSP00000433168.1:n.481T=
ENST00000544455.5:c.8919T= ENSP00000439902.1:p.Arg2973=
NM_000059.3:c.8919T= , LRG_293t1:c.8919T= NP_000050.2:p.Arg2973=
XM_011535203.1:c.8919T= XP_011533505.1:p.Arg2973=
XM_011535204.1:c.8823T= XP_011533506.1:p.Arg2941=
XM_011535205.1:c.8755-269T= XP_011533507.1:n.8755-269T=
NM_000059.4:c.8919T= MANE Select NP_000050.3:p.Arg2973=