Canonical Allele Identifier: CA2082834898
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398273A= , CM000675.2:g.32398273A= GRCh38
NC_000013.10:g.32972410A= , CM000675.1:g.32972410A= GRCh37
NC_000013.9:g.31870410A= NCBI36
NG_012772.3:g.87794A= , LRG_293:g.87794A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*283A= ENSP00000434898.2:n.*283A=
ENST00000528762.2:c.*1127A= ENSP00000433168.2:n.*1127A=
ENST00000530893.7:c.9391A= ENSP00000499438.2:p.Lys3131=
ENST00000665585.2:c.*1322A= ENSP00000499570.2:n.*1322A=
ENST00000700202.2:c.9709A= ENSP00000514856.2:p.Lys3237=
ENST00000700202.1:c.2176A= ENSP00000514856.1:p.Lys726=
ENST00000700203.1:n.1887A=
ENST00000380152.8:c.9760A= MANE Select ENSP00000369497.3:p.Lys3254=
ENST00000544455.6:c.9760A= ENSP00000439902.1:p.Lys3254=
ENST00000614259.2:c.9768A= ENSP00000506251.1:n.9768A=
ENST00000680887.1:c.9760A= ENSP00000505508.1:p.Lys3254=
ENST00000380152.7:c.9760A= ENSP00000369497.3:p.Lys3254=
ENST00000533776.1:n.348A=
ENST00000544455.5:c.9760A= ENSP00000439902.1:p.Lys3254=
NM_000059.3:c.9760A= , LRG_293t1:c.9760A= NP_000050.2:p.Lys3254=
XM_011535203.1:c.9760A= XP_011533505.1:p.Lys3254=
XM_011535204.1:c.9664A= XP_011533506.1:p.Lys3222=
NM_000059.4:c.9760A= MANE Select NP_000050.3:p.Lys3254=