Canonical Allele Identifier: CA2082835588
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379352_32379353delinsTA , CM000675.2:g.32379352_32379353delinsTA GRCh38
NC_000013.10:g.32953489_32953490delinsTA , CM000675.1:g.32953489_32953490delinsTA GRCh37
NC_000013.9:g.31851489_31851490delinsTA NCBI36
NG_012772.3:g.68873_68874delinsTA , LRG_293:g.68873_68874delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8790_8791delinsTA ENSP00000434898.2:p.Asn2930=
ENST00000528762.2:c.*157_*158delinsTA ENSP00000433168.2:n.*157_*158delinsTA
ENST00000530893.7:c.8421_8422delinsTA ENSP00000499438.2:p.Asn2807=
ENST00000665585.2:c.*352_*353delinsTA ENSP00000499570.2:n.*352_*353delinsTA
ENST00000666593.2:c.8790_8791delinsTA ENSP00000499256.2:p.Asn2930=
ENST00000700202.2:c.8790_8791delinsTA ENSP00000514856.2:p.Asn2930=
ENST00000700202.1:c.1257_1258delinsTA ENSP00000514856.1:p.Asn419=
ENST00000700203.1:n.917_918delinsTA
ENST00000380152.8:c.8790_8791delinsTA MANE Select ENSP00000369497.3:p.Asn2930=
ENST00000544455.6:c.8790_8791delinsTA ENSP00000439902.1:p.Asn2930=
ENST00000614259.2:c.8798_8799delinsTA ENSP00000506251.1:n.8798_8799delinsTA
ENST00000665585.1:c.1668_1669delinsTA
ENST00000680887.1:c.8790_8791delinsTA ENSP00000505508.1:p.Asn2930=
ENST00000380152.7:c.8790_8791delinsTA ENSP00000369497.3:p.Asn2930=
ENST00000528762.1:c.352_353delinsTA ENSP00000433168.1:n.352_353delinsTA
ENST00000544455.5:c.8790_8791delinsTA ENSP00000439902.1:p.Asn2930=
NM_000059.3:c.8790_8791delinsTA , LRG_293t1:c.8790_8791delinsTA NP_000050.2:p.Asn2930=
XM_011535203.1:c.8790_8791delinsTA XP_011533505.1:p.Asn2930=
XM_011535204.1:c.8694_8695delinsTA XP_011533506.1:p.Asn2898=
XM_011535205.1:c.8755-398_8755-397delinsTA XP_011533507.1:n.8755-398_8755-397delinsTA
NM_000059.4:c.8790_8791delinsTA MANE Select NP_000050.3:p.Asn2930=