Canonical Allele Identifier: CA2082816188
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371052_32371054delinsCTA , CM000675.2:g.32371052_32371054delinsCTA GRCh38
NC_000013.10:g.32945189_32945191delinsCTA , CM000675.1:g.32945189_32945191delinsCTA GRCh37
NC_000013.9:g.31843189_31843191delinsCTA NCBI36
NG_012772.3:g.60573_60575delinsCTA , LRG_293:g.60573_60575delinsCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8584_8586delinsCTA ENSP00000434898.2:p.Leu2862=
ENST00000528762.2:c.8584_8586delinsCTA ENSP00000433168.2:p.Leu2862=
ENST00000530893.7:c.8215_8217delinsCTA ENSP00000499438.2:p.Leu2739=
ENST00000665585.2:c.8584_8586delinsCTA ENSP00000499570.2:p.Leu2862=
ENST00000666593.2:c.8584_8586delinsCTA ENSP00000499256.2:p.Leu2862=
ENST00000700202.2:c.8584_8586delinsCTA ENSP00000514856.2:p.Leu2862=
ENST00000700202.1:c.1051_1053delinsCTA ENSP00000514856.1:p.Leu351=
ENST00000380152.8:c.8584_8586delinsCTA MANE Select ENSP00000369497.3:p.Leu2862=
ENST00000544455.6:c.8584_8586delinsCTA ENSP00000439902.1:p.Leu2862=
ENST00000614259.2:c.8592_8594delinsCTA ENSP00000506251.1:n.8592_8594delinsCTA
ENST00000665585.1:c.1149_1151delinsCTA
ENST00000680887.1:c.8584_8586delinsCTA ENSP00000505508.1:p.Leu2862=
ENST00000380152.7:c.8584_8586delinsCTA ENSP00000369497.3:p.Leu2862=
ENST00000528762.1:c.82_84delinsCTA ENSP00000433168.1:p.Leu28=
ENST00000544455.5:c.8584_8586delinsCTA ENSP00000439902.1:p.Leu2862=
NM_000059.3:c.8584_8586delinsCTA , LRG_293t1:c.8584_8586delinsCTA NP_000050.2:p.Leu2862=
XM_011535203.1:c.8584_8586delinsCTA XP_011533505.1:p.Leu2862=
XM_011535204.1:c.8488_8490delinsCTA XP_011533506.1:p.Leu2830=
XM_011535205.1:c.8584_8586delinsCTA XP_011533507.1:p.Leu2862=
NM_000059.4:c.8584_8586delinsCTA MANE Select NP_000050.3:p.Leu2862=