Canonical Allele Identifier: CA2082772896
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315645_32315648delinsAAAG , CM000675.2:g.32315645_32315648delinsAAAG GRCh38
NC_000013.10:g.32889782_32889785delinsAAAG , CM000675.1:g.32889782_32889785delinsAAAG GRCh37
NC_000013.9:g.31787782_31787785delinsAAAG NCBI36
NG_012772.3:g.5166_5169delinsAAAG , LRG_293:g.5166_5169delinsAAAG
NG_017006.1:g.1307_1310delinsCTTT
NG_017006.2:g.4716_4719delinsCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.-62_-59delinsAAAG ENSP00000434898.2:n.-62_-59delinsAAAG
ENST00000528762.2:c.-62_-59delinsAAAG ENSP00000433168.2:n.-62_-59delinsAAAG
ENST00000530893.7:c.-427_-424delinsAAAG ENSP00000499438.2:n.-427_-424delinsAAAG
ENST00000665585.2:c.-62_-59delinsAAAG ENSP00000499570.2:n.-62_-59delinsAAAG
ENST00000666593.2:c.-62_-59delinsAAAG ENSP00000499256.2:n.-62_-59delinsAAAG
ENST00000700202.2:c.-62_-59delinsAAAG ENSP00000514856.2:n.-62_-59delinsAAAG
ENST00000700199.1:n.63_66delinsAAAG
ENST00000700200.1:n.63_66delinsAAAG
ENST00000700201.1:c.-62_-59delinsAAAG ENSP00000514855.1:n.-62_-59delinsAAAG
ENST00000380152.8:c.-62_-59delinsAAAG MANE Select ENSP00000369497.3:n.-62_-59delinsAAAG
ENST00000544455.6:c.-40+500_-40+503delinsAAAG ENSP00000439902.1:n.-40+500_-40+503delinsAAAG
ENST00000380152.7:c.-62_-59delinsAAAG ENSP00000369497.3:n.-62_-59delinsAAAG
ENST00000530893.6:n.141_144delinsAAAG
ENST00000544455.5:c.-62_-59delinsAAAG ENSP00000439902.1:n.-62_-59delinsAAAG
NM_000059.3:c.-62_-59delinsAAAG , LRG_293t1:c.-62_-59delinsAAAG NP_000050.2:n.-62_-59delinsAAAG
XM_011535203.1:c.-40+500_-40+503delinsAAAG XP_011533505.1:n.-40+500_-40+503delinsAAAG
XM_011535204.1:c.-62_-59delinsAAAG XP_011533506.1:n.-62_-59delinsAAAG
XM_011535205.1:c.-62_-59delinsAAAG XP_011533507.1:n.-62_-59delinsAAAG
NM_000059.4:c.-62_-59delinsAAAG MANE Select NP_000050.3:n.-62_-59delinsAAAG