Canonical Allele Identifier: CA3250154599
Community Standard Title: NM_000059.4(BRCA2):c.7986_7987delinsAA (p.Glu2663Lys)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32363188_32363189delinsAA , CM000675.2:g.32363188_32363189delinsAA GRCh38
NC_000013.10:g.32937325_32937326delinsAA , CM000675.1:g.32937325_32937326delinsAA GRCh37
NC_000013.9:g.31835325_31835326delinsAA NCBI36
NG_012772.3:g.52709_52710delinsAA , LRG_293:g.52709_52710delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.7986_7987delinsAA MANE Select NP_000050.3:p.Glu2663Lys
ENST00000380152.8:c.7986_7987delinsAA MANE Select ENSP00000369497.3:p.Glu2663Lys
NM_000059.3:c.7986_7987delinsAA , LRG_293t1:c.7986_7987delinsAA NP_000050.2:p.Glu2663Lys
ENST00000380152.7:c.7986_7987delinsAA ENSP00000369497.3:p.Glu2663Lys
ENST00000470094.2:c.7986_7987delinsAA ENSP00000434898.2:p.Glu2663Lys
ENST00000528762.2:c.7986_7987delinsAA ENSP00000433168.2:p.Glu2663Lys
ENST00000530893.7:c.7617_7618delinsAA ENSP00000499438.2:p.Glu2540Lys
ENST00000544455.5:c.7986_7987delinsAA ENSP00000439902.1:p.Glu2663Lys
ENST00000544455.6:c.7986_7987delinsAA ENSP00000439902.1:p.Glu2663Lys
ENST00000614259.2:c.7994_7995delinsAA ENSP00000506251.1:n.7994_7995delinsAA
ENST00000665585.1:c.551_552delinsAA
ENST00000665585.2:c.7986_7987delinsAA ENSP00000499570.2:p.Glu2663Lys
ENST00000666593.2:c.7986_7987delinsAA ENSP00000499256.2:p.Glu2663Lys
ENST00000680887.1:c.7986_7987delinsAA ENSP00000505508.1:p.Glu2663Lys
ENST00000700202.1:c.453_454delinsAA ENSP00000514856.1:p.Glu152Lys
ENST00000700202.2:c.7986_7987delinsAA ENSP00000514856.2:p.Glu2663Lys
XM_011535203.1:c.7986_7987delinsAA XP_011533505.1:p.Glu2663Lys
XM_011535204.1:c.7890_7891delinsAA XP_011533506.1:p.Glu2631Lys
XM_011535205.1:c.7986_7987delinsAA XP_011533507.1:p.Glu2663Lys