Canonical Allele Identifier: CA2082837212
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379723_32379732delinsGCATCTTTCT , CM000675.2:g.32379723_32379732delinsGCATCTTTCT GRCh38
NC_000013.10:g.32953860_32953869delinsGCATCTTTCT , CM000675.1:g.32953860_32953869delinsGCATCTTTCT GRCh37
NC_000013.9:g.31851860_31851869delinsGCATCTTTCT NCBI36
NG_012772.3:g.69244_69253delinsGCATCTTTCT , LRG_293:g.69244_69253delinsGCATCTTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8954-27_8954-18delinsGCATCTTTCT ENSP00000434898.2:n.8954-27_8954-18delinsGCATCTTTCT
ENST00000528762.2:c.*321-27_*321-18delinsGCATCTTTCT ENSP00000433168.2:n.*321-27_*321-18delinsGCATCTTTCT
ENST00000530893.7:c.8585-27_8585-18delinsGCATCTTTCT ENSP00000499438.2:n.8585-27_8585-18delinsGCATCTTTCT
ENST00000665585.2:c.*516-27_*516-18delinsGCATCTTTCT ENSP00000499570.2:n.*516-27_*516-18delinsGCATCTTTCT
ENST00000666593.2:c.8954-27_8954-18delinsGCATCTTTCT ENSP00000499256.2:n.8954-27_8954-18delinsGCATCTTTCT
ENST00000700202.2:c.8954-78_8954-69delinsGCATCTTTCT ENSP00000514856.2:n.8954-78_8954-69delinsGCATCTTTCT
ENST00000700202.1:c.1421-78_1421-69delinsGCATCTTTCT ENSP00000514856.1:n.1421-78_1421-69delinsGCATCTTTCT
ENST00000700203.1:n.1081-27_1081-18delinsGCATCTTTCT
ENST00000380152.8:c.8954-27_8954-18delinsGCATCTTTCT MANE Select ENSP00000369497.3:n.8954-27_8954-18delinsGCATCTTTCT
ENST00000544455.6:c.8954-27_8954-18delinsGCATCTTTCT ENSP00000439902.1:n.8954-27_8954-18delinsGCATCTTTCT
ENST00000614259.2:c.8962-27_8962-18delinsGCATCTTTCT ENSP00000506251.1:n.8962-27_8962-18delinsGCATCTTTCT
ENST00000665585.1:c.1832-27_1832-18delinsGCATCTTTCT
ENST00000680887.1:c.8954-27_8954-18delinsGCATCTTTCT ENSP00000505508.1:n.8954-27_8954-18delinsGCATCTTTCT
ENST00000380152.7:c.8954-27_8954-18delinsGCATCTTTCT ENSP00000369497.3:n.8954-27_8954-18delinsGCATCTTTCT
ENST00000544455.5:c.8954-27_8954-18delinsGCATCTTTCT ENSP00000439902.1:n.8954-27_8954-18delinsGCATCTTTCT
NM_000059.3:c.8954-27_8954-18delinsGCATCTTTCT , LRG_293t1:c.8954-27_8954-18delinsGCATCTTTCT NP_000050.2:n.8954-27_8954-18delinsGCATCTTTCT
XM_011535203.1:c.8954-27_8954-18delinsGCATCTTTCT XP_011533505.1:n.8954-27_8954-18delinsGCATCTTTCT
XM_011535204.1:c.8858-27_8858-18delinsGCATCTTTCT XP_011533506.1:n.8858-27_8858-18delinsGCATCTTTCT
XM_011535205.1:c.8755-27_8755-18delinsGCATCTTTCT XP_011533507.1:n.8755-27_8755-18delinsGCATCTTTCT
NM_000059.4:c.8954-27_8954-18delinsGCATCTTTCT MANE Select NP_000050.3:n.8954-27_8954-18delinsGCATCTTTCT