Canonical Allele Identifier: CA2082759507
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330992_32330996delinsACAGT , CM000675.2:g.32330992_32330996delinsACAGT GRCh38
NC_000013.10:g.32905129_32905133delinsACAGT , CM000675.1:g.32905129_32905133delinsACAGT GRCh37
NC_000013.9:g.31803129_31803133delinsACAGT NCBI36
NG_012772.3:g.20513_20517delinsACAGT , LRG_293:g.20513_20517delinsACAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.755_759delinsACAGT ENSP00000434898.2:p.Asp252=
ENST00000528762.2:c.755_759delinsACAGT ENSP00000433168.2:p.Asp252=
ENST00000530893.7:c.386_390delinsACAGT ENSP00000499438.2:p.Asp129=
ENST00000665585.2:c.755_759delinsACAGT ENSP00000499570.2:p.Asp252=
ENST00000666593.2:c.755_759delinsACAGT ENSP00000499256.2:p.Asp252=
ENST00000700202.2:c.755_759delinsACAGT ENSP00000514856.2:p.Asp252=
ENST00000700201.1:c.*534_*538delinsACAGT ENSP00000514855.1:n.*534_*538delinsACAGT
ENST00000380152.8:c.755_759delinsACAGT MANE Select ENSP00000369497.3:p.Asp252=
ENST00000544455.6:c.755_759delinsACAGT ENSP00000439902.1:p.Asp252=
ENST00000614259.2:c.755_759delinsACAGT ENSP00000506251.1:p.Asp252=
ENST00000680887.1:c.755_759delinsACAGT ENSP00000505508.1:p.Asp252=
ENST00000380152.7:c.755_759delinsACAGT ENSP00000369497.3:p.Asp252=
ENST00000530893.6:n.953_957delinsACAGT
ENST00000544455.5:c.755_759delinsACAGT ENSP00000439902.1:p.Asp252=
ENST00000614259.1:n.755_759delinsACAGT
NM_000059.3:c.755_759delinsACAGT , LRG_293t1:c.755_759delinsACAGT NP_000050.2:p.Asp252=
XM_011535203.1:c.755_759delinsACAGT XP_011533505.1:p.Asp252=
XM_011535204.1:c.755_759delinsACAGT XP_011533506.1:p.Asp252=
XM_011535205.1:c.755_759delinsACAGT XP_011533507.1:p.Asp252=
NM_000059.4:c.755_759delinsACAGT MANE Select NP_000050.3:p.Asp252=