Canonical Allele Identifier: CA2082835913
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379406_32379410delinsTAGGA , CM000675.2:g.32379406_32379410delinsTAGGA GRCh38
NC_000013.10:g.32953543_32953547delinsTAGGA , CM000675.1:g.32953543_32953547delinsTAGGA GRCh37
NC_000013.9:g.31851543_31851547delinsTAGGA NCBI36
NG_012772.3:g.68927_68931delinsTAGGA , LRG_293:g.68927_68931delinsTAGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8844_8848delinsTAGGA ENSP00000434898.2:p.Ile2948=
ENST00000528762.2:c.*211_*215delinsTAGGA ENSP00000433168.2:n.*211_*215delinsTAGGA
ENST00000530893.7:c.8475_8479delinsTAGGA ENSP00000499438.2:p.Ile2825=
ENST00000665585.2:c.*406_*410delinsTAGGA ENSP00000499570.2:n.*406_*410delinsTAGGA
ENST00000666593.2:c.8844_8848delinsTAGGA ENSP00000499256.2:p.Ile2948=
ENST00000700202.2:c.8844_8848delinsTAGGA ENSP00000514856.2:p.Ile2948=
ENST00000700202.1:c.1311_1315delinsTAGGA ENSP00000514856.1:p.Ile437=
ENST00000700203.1:n.971_975delinsTAGGA
ENST00000380152.8:c.8844_8848delinsTAGGA MANE Select ENSP00000369497.3:p.Ile2948=
ENST00000544455.6:c.8844_8848delinsTAGGA ENSP00000439902.1:p.Ile2948=
ENST00000614259.2:c.8852_8856delinsTAGGA ENSP00000506251.1:n.8852_8856delinsTAGGA
ENST00000665585.1:c.1722_1726delinsTAGGA
ENST00000680887.1:c.8844_8848delinsTAGGA ENSP00000505508.1:p.Ile2948=
ENST00000380152.7:c.8844_8848delinsTAGGA ENSP00000369497.3:p.Ile2948=
ENST00000528762.1:c.406_410delinsTAGGA ENSP00000433168.1:n.406_410delinsTAGGA
ENST00000544455.5:c.8844_8848delinsTAGGA ENSP00000439902.1:p.Ile2948=
NM_000059.3:c.8844_8848delinsTAGGA , LRG_293t1:c.8844_8848delinsTAGGA NP_000050.2:p.Ile2948=
XM_011535203.1:c.8844_8848delinsTAGGA XP_011533505.1:p.Ile2948=
XM_011535204.1:c.8748_8752delinsTAGGA XP_011533506.1:p.Ile2916=
XM_011535205.1:c.8755-344_8755-340delinsTAGGA XP_011533507.1:n.8755-344_8755-340delinsTAGGA
NM_000059.4:c.8844_8848delinsTAGGA MANE Select NP_000050.3:p.Ile2948=