Canonical Allele Identifier: CA2082783257
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319179_32319180delinsAC , CM000675.2:g.32319179_32319180delinsAC GRCh38
NC_000013.10:g.32893316_32893317delinsAC , CM000675.1:g.32893316_32893317delinsAC GRCh37
NC_000013.9:g.31791316_31791317delinsAC NCBI36
NG_012772.3:g.8700_8701delinsAC , LRG_293:g.8700_8701delinsAC
NG_017006.2:g.1184_1185delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.170_171delinsAC ENSP00000434898.2:p.Tyr57=
ENST00000528762.2:c.170_171delinsAC ENSP00000433168.2:p.Tyr57=
ENST00000530893.7:c.-200_-199delinsAC ENSP00000499438.2:n.-200_-199delinsAC
ENST00000665585.2:c.170_171delinsAC ENSP00000499570.2:p.Tyr57=
ENST00000666593.2:c.170_171delinsAC ENSP00000499256.2:p.Tyr57=
ENST00000700202.2:c.170_171delinsAC ENSP00000514856.2:p.Tyr57=
ENST00000700200.1:n.191+2652_191+2653delinsAC
ENST00000700201.1:c.170_171delinsAC ENSP00000514855.1:p.Tyr57=
ENST00000380152.8:c.170_171delinsAC MANE Select ENSP00000369497.3:p.Tyr57=
ENST00000544455.6:c.170_171delinsAC ENSP00000439902.1:p.Tyr57=
ENST00000614259.2:c.170_171delinsAC ENSP00000506251.1:p.Tyr57=
ENST00000680887.1:c.170_171delinsAC ENSP00000505508.1:p.Tyr57=
ENST00000380152.7:c.170_171delinsAC ENSP00000369497.3:p.Tyr57=
ENST00000530893.6:n.368_369delinsAC
ENST00000544455.5:c.170_171delinsAC ENSP00000439902.1:p.Tyr57=
ENST00000614259.1:n.170_171delinsAC
NM_000059.3:c.170_171delinsAC , LRG_293t1:c.170_171delinsAC NP_000050.2:p.Tyr57=
XM_011535203.1:c.170_171delinsAC XP_011533505.1:p.Tyr57=
XM_011535204.1:c.170_171delinsAC XP_011533506.1:p.Tyr57=
XM_011535205.1:c.170_171delinsAC XP_011533507.1:p.Tyr57=
NM_000059.4:c.170_171delinsAC MANE Select NP_000050.3:p.Tyr57=