Canonical Allele Identifier: CA2082758869
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330922G= , CM000675.2:g.32330922G= GRCh38
NC_000013.10:g.32905059G= , CM000675.1:g.32905059G= GRCh37
NC_000013.9:g.31803059G= NCBI36
NG_012772.3:g.20443G= , LRG_293:g.20443G=

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.685G= ENSP00000434898.2:p.Val229=
ENST00000528762.2:c.685G= ENSP00000433168.2:p.Val229=
ENST00000530893.7:c.316G= ENSP00000499438.2:p.Val106=
ENST00000665585.2:c.685G= ENSP00000499570.2:p.Val229=
ENST00000666593.2:c.685G= ENSP00000499256.2:p.Val229=
ENST00000700202.2:c.685G= ENSP00000514856.2:p.Val229=
ENST00000700201.1:c.*464G= ENSP00000514855.1:n.*464G=
ENST00000380152.8:c.685G= MANE Select ENSP00000369497.3:p.Val229=
ENST00000544455.6:c.685G= ENSP00000439902.1:p.Val229=
ENST00000614259.2:c.685G= ENSP00000506251.1:p.Val229=
ENST00000680887.1:c.685G= ENSP00000505508.1:p.Val229=
ENST00000380152.7:c.685G= ENSP00000369497.3:p.Val229=
ENST00000530893.6:n.883G=
ENST00000544455.5:c.685G= ENSP00000439902.1:p.Val229=
ENST00000614259.1:n.685G=
NM_000059.3:c.685G= , LRG_293t1:c.685G= NP_000050.2:p.Val229=
XM_011535203.1:c.685G= XP_011533505.1:p.Val229=
XM_011535204.1:c.685G= XP_011533506.1:p.Val229=
XM_011535205.1:c.685G= XP_011533507.1:p.Val229=
NM_000059.4:c.685G= MANE Select NP_000050.3:p.Val229=