Canonical Allele Identifier: CA2082820294
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338096_32338100delinsTAGTG , CM000675.2:g.32338096_32338100delinsTAGTG GRCh38
NC_000013.10:g.32912233_32912237delinsTAGTG , CM000675.1:g.32912233_32912237delinsTAGTG GRCh37
NC_000013.9:g.31810233_31810237delinsTAGTG NCBI36
NG_012772.3:g.27617_27621delinsTAGTG , LRG_293:g.27617_27621delinsTAGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.3741_3745delinsTAGTG ENSP00000434898.2:p.Ile1247=
ENST00000528762.2:c.3741_3745delinsTAGTG ENSP00000433168.2:p.Ile1247=
ENST00000530893.7:c.3372_3376delinsTAGTG ENSP00000499438.2:p.Ile1124=
ENST00000665585.2:c.3741_3745delinsTAGTG ENSP00000499570.2:p.Ile1247=
ENST00000666593.2:c.3741_3745delinsTAGTG ENSP00000499256.2:p.Ile1247=
ENST00000700202.2:c.3741_3745delinsTAGTG ENSP00000514856.2:p.Ile1247=
ENST00000380152.8:c.3741_3745delinsTAGTG MANE Select ENSP00000369497.3:p.Ile1247=
ENST00000544455.6:c.3741_3745delinsTAGTG ENSP00000439902.1:p.Ile1247=
ENST00000614259.2:c.3741_3745delinsTAGTG ENSP00000506251.1:p.Ile1247=
ENST00000680887.1:c.3741_3745delinsTAGTG ENSP00000505508.1:p.Ile1247=
ENST00000380152.7:c.3741_3745delinsTAGTG ENSP00000369497.3:p.Ile1247=
ENST00000544455.5:c.3741_3745delinsTAGTG ENSP00000439902.1:p.Ile1247=
ENST00000614259.1:n.3741_3745delinsTAGTG
NM_000059.3:c.3741_3745delinsTAGTG , LRG_293t1:c.3741_3745delinsTAGTG NP_000050.2:p.Ile1247=
XM_011535203.1:c.3741_3745delinsTAGTG XP_011533505.1:p.Ile1247=
XM_011535204.1:c.3741_3745delinsTAGTG XP_011533506.1:p.Ile1247=
XM_011535205.1:c.3741_3745delinsTAGTG XP_011533507.1:p.Ile1247=
NM_000059.4:c.3741_3745delinsTAGTG MANE Select NP_000050.3:p.Ile1247=