Canonical Allele Identifier: CA2082836752
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379510_32379511delinsAT , CM000675.2:g.32379510_32379511delinsAT GRCh38
NC_000013.10:g.32953647_32953648delinsAT , CM000675.1:g.32953647_32953648delinsAT GRCh37
NC_000013.9:g.31851647_31851648delinsAT NCBI36
NG_012772.3:g.69031_69032delinsAT , LRG_293:g.69031_69032delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8948_8949delinsAT ENSP00000434898.2:p.Asp2983=
ENST00000528762.2:c.*315_*316delinsAT ENSP00000433168.2:n.*315_*316delinsAT
ENST00000530893.7:c.8579_8580delinsAT ENSP00000499438.2:p.Asp2860=
ENST00000665585.2:c.*510_*511delinsAT ENSP00000499570.2:n.*510_*511delinsAT
ENST00000666593.2:c.8948_8949delinsAT ENSP00000499256.2:p.Asp2983=
ENST00000700202.2:c.8948_8949delinsAT ENSP00000514856.2:p.Asp2983=
ENST00000700202.1:c.1415_1416delinsAT ENSP00000514856.1:p.Asp472=
ENST00000700203.1:n.1075_1076delinsAT
ENST00000380152.8:c.8948_8949delinsAT MANE Select ENSP00000369497.3:p.Asp2983=
ENST00000544455.6:c.8948_8949delinsAT ENSP00000439902.1:p.Asp2983=
ENST00000614259.2:c.8956_8957delinsAT ENSP00000506251.1:n.8956_8957delinsAT
ENST00000665585.1:c.1826_1827delinsAT
ENST00000680887.1:c.8948_8949delinsAT ENSP00000505508.1:p.Asp2983=
ENST00000380152.7:c.8948_8949delinsAT ENSP00000369497.3:p.Asp2983=
ENST00000544455.5:c.8948_8949delinsAT ENSP00000439902.1:p.Asp2983=
NM_000059.3:c.8948_8949delinsAT , LRG_293t1:c.8948_8949delinsAT NP_000050.2:p.Asp2983=
XM_011535203.1:c.8948_8949delinsAT XP_011533505.1:p.Asp2983=
XM_011535204.1:c.8852_8853delinsAT XP_011533506.1:p.Asp2951=
XM_011535205.1:c.8755-240_8755-239delinsAT XP_011533507.1:n.8755-240_8755-239delinsAT
NM_000059.4:c.8948_8949delinsAT MANE Select NP_000050.3:p.Asp2983=