Canonical Allele Identifier: CA2082827657
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376533_32376536delinsAAAG , CM000675.2:g.32376533_32376536delinsAAAG GRCh38
NC_000013.10:g.32950670_32950673delinsAAAG , CM000675.1:g.32950670_32950673delinsAAAG GRCh37
NC_000013.9:g.31848670_31848673delinsAAAG NCBI36
NG_012772.3:g.66054_66057delinsAAAG , LRG_293:g.66054_66057delinsAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8633-137_8633-134delinsAAAG ENSP00000434898.2:n.8633-137_8633-134delinsAAAG
ENST00000528762.2:c.8697-137_8697-134delinsAAAG ENSP00000433168.2:n.8697-137_8697-134delinsAAAG
ENST00000530893.7:c.8264-137_8264-134delinsAAAG ENSP00000499438.2:n.8264-137_8264-134delinsAAAG
ENST00000665585.2:c.*195-137_*195-134delinsAAAG ENSP00000499570.2:n.*195-137_*195-134delinsAAAG
ENST00000666593.2:c.8633-137_8633-134delinsAAAG ENSP00000499256.2:n.8633-137_8633-134delinsAAAG
ENST00000700202.2:c.8633-137_8633-134delinsAAAG ENSP00000514856.2:n.8633-137_8633-134delinsAAAG
ENST00000700202.1:c.1100-137_1100-134delinsAAAG ENSP00000514856.1:n.1100-137_1100-134delinsAAAG
ENST00000700203.1:n.623_626delinsAAAG
ENST00000380152.8:c.8633-137_8633-134delinsAAAG MANE Select ENSP00000369497.3:n.8633-137_8633-134delinsAAAG
ENST00000544455.6:c.8633-137_8633-134delinsAAAG ENSP00000439902.1:n.8633-137_8633-134delinsAAAG
ENST00000614259.2:c.8641-137_8641-134delinsAAAG ENSP00000506251.1:n.8641-137_8641-134delinsAAAG
ENST00000665585.1:c.1511-137_1511-134delinsAAAG
ENST00000680887.1:c.8633-137_8633-134delinsAAAG ENSP00000505508.1:n.8633-137_8633-134delinsAAAG
ENST00000380152.7:c.8633-137_8633-134delinsAAAG ENSP00000369497.3:n.8633-137_8633-134delinsAAAG
ENST00000528762.1:c.195-137_195-134delinsAAAG ENSP00000433168.1:n.195-137_195-134delinsAAAG
ENST00000544455.5:c.8633-137_8633-134delinsAAAG ENSP00000439902.1:n.8633-137_8633-134delinsAAAG
NM_000059.3:c.8633-137_8633-134delinsAAAG , LRG_293t1:c.8633-137_8633-134delinsAAAG NP_000050.2:n.8633-137_8633-134delinsAAAG
XM_011535203.1:c.8633-137_8633-134delinsAAAG XP_011533505.1:n.8633-137_8633-134delinsAAAG
XM_011535204.1:c.8537-137_8537-134delinsAAAG XP_011533506.1:n.8537-137_8537-134delinsAAAG
XM_011535205.1:c.8633-137_8633-134delinsAAAG XP_011533507.1:n.8633-137_8633-134delinsAAAG
NM_000059.4:c.8633-137_8633-134delinsAAAG MANE Select NP_000050.3:n.8633-137_8633-134delinsAAAG