Canonical Allele Identifier: CA2082819135
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337996_32338005delinsTGGGGTTTAG , CM000675.2:g.32337996_32338005delinsTGGGGTTTAG GRCh38
NC_000013.10:g.32912133_32912142delinsTGGGGTTTAG , CM000675.1:g.32912133_32912142delinsTGGGGTTTAG GRCh37
NC_000013.9:g.31810133_31810142delinsTGGGGTTTAG NCBI36
NG_012772.3:g.27517_27526delinsTGGGGTTTAG , LRG_293:g.27517_27526delinsTGGGGTTTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.3641_3650delinsTGGGGTTTAG ENSP00000434898.2:p.Val1214=
ENST00000528762.2:c.3641_3650delinsTGGGGTTTAG ENSP00000433168.2:p.Val1214=
ENST00000530893.7:c.3272_3281delinsTGGGGTTTAG ENSP00000499438.2:p.Val1091=
ENST00000665585.2:c.3641_3650delinsTGGGGTTTAG ENSP00000499570.2:p.Val1214=
ENST00000666593.2:c.3641_3650delinsTGGGGTTTAG ENSP00000499256.2:p.Val1214=
ENST00000700202.2:c.3641_3650delinsTGGGGTTTAG ENSP00000514856.2:p.Val1214=
ENST00000380152.8:c.3641_3650delinsTGGGGTTTAG MANE Select ENSP00000369497.3:p.Val1214=
ENST00000544455.6:c.3641_3650delinsTGGGGTTTAG ENSP00000439902.1:p.Val1214=
ENST00000614259.2:c.3641_3650delinsTGGGGTTTAG ENSP00000506251.1:p.Val1214=
ENST00000680887.1:c.3641_3650delinsTGGGGTTTAG ENSP00000505508.1:p.Val1214=
ENST00000380152.7:c.3641_3650delinsTGGGGTTTAG ENSP00000369497.3:p.Val1214=
ENST00000544455.5:c.3641_3650delinsTGGGGTTTAG ENSP00000439902.1:p.Val1214=
ENST00000614259.1:n.3641_3650delinsTGGGGTTTAG
NM_000059.3:c.3641_3650delinsTGGGGTTTAG , LRG_293t1:c.3641_3650delinsTGGGGTTTAG NP_000050.2:p.Val1214=
XM_011535203.1:c.3641_3650delinsTGGGGTTTAG XP_011533505.1:p.Val1214=
XM_011535204.1:c.3641_3650delinsTGGGGTTTAG XP_011533506.1:p.Val1214=
XM_011535205.1:c.3641_3650delinsTGGGGTTTAG XP_011533507.1:p.Val1214=
NM_000059.4:c.3641_3650delinsTGGGGTTTAG MANE Select NP_000050.3:p.Val1214=