Canonical Allele Identifier: CA3261216035
Community Standard Title: NM_000059.4(BRCA2):c.9218_9219delinsGT (p.Asp3073Gly)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380107_32380108delinsGT , CM000675.2:g.32380107_32380108delinsGT GRCh38
NC_000013.10:g.32954244_32954245delinsGT , CM000675.1:g.32954244_32954245delinsGT GRCh37
NC_000013.9:g.31852244_31852245delinsGT NCBI36
NG_012772.3:g.69628_69629delinsGT , LRG_293:g.69628_69629delinsGT

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9218_9219delinsGT MANE Select NP_000050.3:p.Asp3073Gly
ENST00000380152.8:c.9218_9219delinsGT MANE Select ENSP00000369497.3:p.Asp3073Gly
NM_000059.3:c.9218_9219delinsGT , LRG_293t1:c.9218_9219delinsGT NP_000050.2:p.Asp3073Gly
ENST00000380152.7:c.9218_9219delinsGT ENSP00000369497.3:p.Asp3073Gly
ENST00000470094.1:c.175_176delinsGT
ENST00000470094.2:c.9218_9219delinsGT ENSP00000434898.2:p.Asp3073Gly
ENST00000528762.2:c.*585_*586delinsGT ENSP00000433168.2:n.*585_*586delinsGT
ENST00000530893.7:c.8849_8850delinsGT ENSP00000499438.2:p.Asp2950Gly
ENST00000544455.5:c.9218_9219delinsGT ENSP00000439902.1:p.Asp3073Gly
ENST00000544455.6:c.9218_9219delinsGT ENSP00000439902.1:p.Asp3073Gly
ENST00000614259.2:c.9226_9227delinsGT ENSP00000506251.1:n.9226_9227delinsGT
ENST00000665585.1:c.2096_2097delinsGT
ENST00000665585.2:c.*780_*781delinsGT ENSP00000499570.2:n.*780_*781delinsGT
ENST00000666593.1:c.101_102delinsGT ENSP00000499256.1:p.Asp34Gly
ENST00000666593.2:c.9218_9219delinsGT ENSP00000499256.2:p.Asp3073Gly
ENST00000680887.1:c.9218_9219delinsGT ENSP00000505508.1:p.Asp3073Gly
ENST00000700202.1:c.1634_1635delinsGT ENSP00000514856.1:p.Asp545Gly
ENST00000700202.2:c.9167_9168delinsGT ENSP00000514856.2:p.Asp3056Gly
ENST00000700203.1:n.1345_1346delinsGT
XM_011535203.1:c.9218_9219delinsGT XP_011533505.1:p.Asp3073Gly
XM_011535204.1:c.9122_9123delinsGT XP_011533506.1:p.Asp3041Gly