Canonical Allele Identifier: CA2082835336
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398325T= , CM000675.2:g.32398325T= GRCh38
NC_000013.10:g.32972462T= , CM000675.1:g.32972462T= GRCh37
NC_000013.9:g.31870462T= NCBI36
NG_012772.3:g.87846T= , LRG_293:g.87846T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*335T= ENSP00000434898.2:n.*335T=
ENST00000528762.2:c.*1179T= ENSP00000433168.2:n.*1179T=
ENST00000530893.7:c.9443T= ENSP00000499438.2:p.Leu3148=
ENST00000665585.2:c.*1374T= ENSP00000499570.2:n.*1374T=
ENST00000700202.2:c.9761T= ENSP00000514856.2:p.Leu3254=
ENST00000700202.1:c.2228T= ENSP00000514856.1:p.Leu743=
ENST00000700203.1:n.1939T=
ENST00000380152.8:c.9812T= MANE Select ENSP00000369497.3:p.Leu3271=
ENST00000544455.6:c.9812T= ENSP00000439902.1:p.Leu3271=
ENST00000614259.2:c.9820T= ENSP00000506251.1:n.9820T=
ENST00000680887.1:c.9812T= ENSP00000505508.1:p.Leu3271=
ENST00000380152.7:c.9812T= ENSP00000369497.3:p.Leu3271=
ENST00000533776.1:n.400T=
ENST00000544455.5:c.9812T= ENSP00000439902.1:p.Leu3271=
NM_000059.3:c.9812T= , LRG_293t1:c.9812T= NP_000050.2:p.Leu3271=
XM_011535203.1:c.9812T= XP_011533505.1:p.Leu3271=
XM_011535204.1:c.9716T= XP_011533506.1:p.Leu3239=
NM_000059.4:c.9812T= MANE Select NP_000050.3:p.Leu3271=