Canonical Allele Identifier: CA16619639
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418075
dbSNP Id: rs1064793061

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319230del , CM000675.2:g.32319230del GRCh38
NC_000013.10:g.32893367del , CM000675.1:g.32893367del GRCh37
NC_000013.9:g.31791367del NCBI36
NG_012772.3:g.8751del , LRG_293:g.8751del
NG_017006.2:g.1134del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.221del ENSP00000434898.2:p.Leu74ArgfsTer6
ENST00000528762.2:c.221del ENSP00000433168.2:p.Leu74ArgfsTer6
ENST00000530893.7:c.-149del ENSP00000499438.2:n.-149del
ENST00000665585.2:c.221del ENSP00000499570.2:p.Leu74ArgfsTer6
ENST00000666593.2:c.221del ENSP00000499256.2:p.Leu74ArgfsTer6
ENST00000700202.2:c.221del ENSP00000514856.2:p.Leu74ArgfsTer6
ENST00000700200.1:n.191+2703del
ENST00000700201.1:c.221del ENSP00000514855.1:p.Leu74ArgfsTer6
ENST00000380152.8:c.221del MANE Select ENSP00000369497.3:p.Leu74ArgfsTer6
ENST00000544455.6:c.221del ENSP00000439902.1:p.Leu74ArgfsTer6
ENST00000614259.2:c.221del ENSP00000506251.1:p.Leu74ArgfsTer6
ENST00000680887.1:c.221del ENSP00000505508.1:p.Leu74ArgfsTer6
ENST00000380152.7:c.221del ENSP00000369497.3:p.Leu74ArgfsTer6
ENST00000530893.6:n.419del
ENST00000544455.5:c.221del ENSP00000439902.1:p.Leu74ArgfsTer6
ENST00000614259.1:n.221del
NM_000059.3:c.221del , LRG_293t1:c.221del NP_000050.2:p.Leu74ArgfsTer6
XM_011535203.1:c.221del XP_011533505.1:p.Leu74ArgfsTer6
XM_011535204.1:c.221del XP_011533506.1:p.Leu74ArgfsTer6
XM_011535205.1:c.221del XP_011533507.1:p.Leu74ArgfsTer6
NM_000059.4:c.221del MANE Select NP_000050.3:p.Leu74ArgfsTer6