Canonical Allele Identifier: CA2082835986
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379422T= , CM000675.2:g.32379422T= GRCh38
NC_000013.10:g.32953559T= , CM000675.1:g.32953559T= GRCh37
NC_000013.9:g.31851559T= NCBI36
NG_012772.3:g.68943T= , LRG_293:g.68943T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8860T= ENSP00000434898.2:p.Ser2954=
ENST00000528762.2:c.*227T= ENSP00000433168.2:n.*227T=
ENST00000530893.7:c.8491T= ENSP00000499438.2:p.Ser2831=
ENST00000665585.2:c.*422T= ENSP00000499570.2:n.*422T=
ENST00000666593.2:c.8860T= ENSP00000499256.2:p.Ser2954=
ENST00000700202.2:c.8860T= ENSP00000514856.2:p.Ser2954=
ENST00000700202.1:c.1327T= ENSP00000514856.1:p.Ser443=
ENST00000700203.1:n.987T=
ENST00000380152.8:c.8860T= MANE Select ENSP00000369497.3:p.Ser2954=
ENST00000544455.6:c.8860T= ENSP00000439902.1:p.Ser2954=
ENST00000614259.2:c.8868T= ENSP00000506251.1:n.8868T=
ENST00000665585.1:c.1738T=
ENST00000680887.1:c.8860T= ENSP00000505508.1:p.Ser2954=
ENST00000380152.7:c.8860T= ENSP00000369497.3:p.Ser2954=
ENST00000528762.1:c.422T= ENSP00000433168.1:n.422T=
ENST00000544455.5:c.8860T= ENSP00000439902.1:p.Ser2954=
NM_000059.3:c.8860T= , LRG_293t1:c.8860T= NP_000050.2:p.Ser2954=
XM_011535203.1:c.8860T= XP_011533505.1:p.Ser2954=
XM_011535204.1:c.8764T= XP_011533506.1:p.Ser2922=
XM_011535205.1:c.8755-328T= XP_011533507.1:n.8755-328T=
NM_000059.4:c.8860T= MANE Select NP_000050.3:p.Ser2954=