Canonical Allele Identifier: CA2082837690
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398658T= , CM000675.2:g.32398658T= GRCh38
NC_000013.10:g.32972795T= , CM000675.1:g.32972795T= GRCh37
NC_000013.9:g.31870795T= NCBI36
NG_012772.3:g.88179T= , LRG_293:g.88179T=

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*668T= ENSP00000434898.2:n.*668T=
ENST00000528762.2:c.*1512T= ENSP00000433168.2:n.*1512T=
ENST00000530893.7:c.9776T= ENSP00000499438.2:p.Leu3259=
ENST00000665585.2:c.*1707T= ENSP00000499570.2:n.*1707T=
ENST00000700202.2:c.10094T= ENSP00000514856.2:p.Leu3365=
ENST00000700202.1:c.2561T= ENSP00000514856.1:p.Leu854=
ENST00000700203.1:n.2272T=
ENST00000380152.8:c.10145T= MANE Select ENSP00000369497.3:p.Leu3382=
ENST00000544455.6:c.10145T= ENSP00000439902.1:p.Leu3382=
ENST00000614259.2:c.10153T= ENSP00000506251.1:n.10153T=
ENST00000680887.1:c.10145T= ENSP00000505508.1:p.Leu3382=
ENST00000380152.7:c.10145T= ENSP00000369497.3:p.Leu3382=
ENST00000544455.5:c.10145T= ENSP00000439902.1:p.Leu3382=
NM_000059.3:c.10145T= , LRG_293t1:c.10145T= NP_000050.2:p.Leu3382=
XM_011535203.1:c.10145T= XP_011533505.1:p.Leu3382=
XM_011535204.1:c.10049T= XP_011533506.1:p.Leu3350=
NM_000059.4:c.10145T= MANE Select NP_000050.3:p.Leu3382=