Canonical Allele Identifier: CA2082835374
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398336_32398337delinsAG , CM000675.2:g.32398336_32398337delinsAG GRCh38
NC_000013.10:g.32972473_32972474delinsAG , CM000675.1:g.32972473_32972474delinsAG GRCh37
NC_000013.9:g.31870473_31870474delinsAG NCBI36
NG_012772.3:g.87857_87858delinsAG , LRG_293:g.87857_87858delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*346_*347delinsAG ENSP00000434898.2:n.*346_*347delinsAG
ENST00000528762.2:c.*1190_*1191delinsAG ENSP00000433168.2:n.*1190_*1191delinsAG
ENST00000530893.7:c.9454_9455delinsAG ENSP00000499438.2:p.Ser3152=
ENST00000665585.2:c.*1385_*1386delinsAG ENSP00000499570.2:n.*1385_*1386delinsAG
ENST00000700202.2:c.9772_9773delinsAG ENSP00000514856.2:p.Ser3258=
ENST00000700202.1:c.2239_2240delinsAG ENSP00000514856.1:p.Ser747=
ENST00000700203.1:n.1950_1951delinsAG
ENST00000380152.8:c.9823_9824delinsAG MANE Select ENSP00000369497.3:p.Ser3275=
ENST00000544455.6:c.9823_9824delinsAG ENSP00000439902.1:p.Ser3275=
ENST00000614259.2:c.9831_9832delinsAG ENSP00000506251.1:n.9831_9832delinsAG
ENST00000680887.1:c.9823_9824delinsAG ENSP00000505508.1:p.Ser3275=
ENST00000380152.7:c.9823_9824delinsAG ENSP00000369497.3:p.Ser3275=
ENST00000533776.1:n.411_412delinsAG
ENST00000544455.5:c.9823_9824delinsAG ENSP00000439902.1:p.Ser3275=
NM_000059.3:c.9823_9824delinsAG , LRG_293t1:c.9823_9824delinsAG NP_000050.2:p.Ser3275=
XM_011535203.1:c.9823_9824delinsAG XP_011533505.1:p.Ser3275=
XM_011535204.1:c.9727_9728delinsAG XP_011533506.1:p.Ser3243=
NM_000059.4:c.9823_9824delinsAG MANE Select NP_000050.3:p.Ser3275=