Canonical Allele Identifier: CA2082835024
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32363266_32363268delinsCTG , CM000675.2:g.32363266_32363268delinsCTG GRCh38
NC_000013.10:g.32937403_32937405delinsCTG , CM000675.1:g.32937403_32937405delinsCTG GRCh37
NC_000013.9:g.31835403_31835405delinsCTG NCBI36
NG_012772.3:g.52787_52789delinsCTG , LRG_293:g.52787_52789delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8064_8066delinsCTG ENSP00000434898.2:p.Leu2688=
ENST00000528762.2:c.8064_8066delinsCTG ENSP00000433168.2:p.Leu2688=
ENST00000530893.7:c.7695_7697delinsCTG ENSP00000499438.2:p.Leu2565=
ENST00000665585.2:c.8064_8066delinsCTG ENSP00000499570.2:p.Leu2688=
ENST00000666593.2:c.8064_8066delinsCTG ENSP00000499256.2:p.Leu2688=
ENST00000700202.2:c.8064_8066delinsCTG ENSP00000514856.2:p.Leu2688=
ENST00000700202.1:c.531_533delinsCTG ENSP00000514856.1:p.Leu177=
ENST00000380152.8:c.8064_8066delinsCTG MANE Select ENSP00000369497.3:p.Leu2688=
ENST00000544455.6:c.8064_8066delinsCTG ENSP00000439902.1:p.Leu2688=
ENST00000614259.2:c.8072_8074delinsCTG ENSP00000506251.1:n.8072_8074delinsCTG
ENST00000665585.1:c.629_631delinsCTG
ENST00000680887.1:c.8064_8066delinsCTG ENSP00000505508.1:p.Leu2688=
ENST00000380152.7:c.8064_8066delinsCTG ENSP00000369497.3:p.Leu2688=
ENST00000544455.5:c.8064_8066delinsCTG ENSP00000439902.1:p.Leu2688=
NM_000059.3:c.8064_8066delinsCTG , LRG_293t1:c.8064_8066delinsCTG NP_000050.2:p.Leu2688=
XM_011535203.1:c.8064_8066delinsCTG XP_011533505.1:p.Leu2688=
XM_011535204.1:c.7968_7970delinsCTG XP_011533506.1:p.Leu2656=
XM_011535205.1:c.8064_8066delinsCTG XP_011533507.1:p.Leu2688=
NM_000059.4:c.8064_8066delinsCTG MANE Select NP_000050.3:p.Leu2688=