Canonical Allele Identifier: CA10585890
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 252407
ClinVar RCV Id: RCV000238797
dbSNP Id: rs879255300

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319090_32319092delinsTAAGACT , CM000675.2:g.32319090_32319092delinsTAAGACT GRCh38
NC_000013.10:g.32893227_32893229delinsTAAGACT , CM000675.1:g.32893227_32893229delinsTAAGACT GRCh37
NC_000013.9:g.31791227_31791229delinsTAAGACT NCBI36
NG_012772.3:g.8611_8613delinsTAAGACT , LRG_293:g.8611_8613delinsTAAGACT
NG_017006.2:g.1272_1274delinsAGTCTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.81_83delinsTAAGACT ENSP00000434898.2:p.Ser28LysfsTer4
ENST00000528762.2:c.81_83delinsTAAGACT ENSP00000433168.2:p.Ser28LysfsTer4
ENST00000530893.7:c.-289_-287delinsTAAGACT ENSP00000499438.2:n.-289_-287delinsTAAGAC...
ENST00000665585.2:c.81_83delinsTAAGACT ENSP00000499570.2:p.Ser28LysfsTer4
ENST00000666593.2:c.81_83delinsTAAGACT ENSP00000499256.2:p.Ser28LysfsTer4
ENST00000700202.2:c.81_83delinsTAAGACT ENSP00000514856.2:p.Ser28LysfsTer4
ENST00000700200.1:n.191+2563_191+2565delinsTAAGACT
ENST00000700201.1:c.81_83delinsTAAGACT ENSP00000514855.1:p.Ser28LysfsTer4
ENST00000380152.8:c.81_83delinsTAAGACT MANE Select ENSP00000369497.3:p.Ser28LysfsTer4
ENST00000544455.6:c.81_83delinsTAAGACT ENSP00000439902.1:p.Ser28LysfsTer4
ENST00000614259.2:c.81_83delinsTAAGACT ENSP00000506251.1:p.Ser28LysfsTer4
ENST00000680887.1:c.81_83delinsTAAGACT ENSP00000505508.1:p.Ser28LysfsTer4
ENST00000380152.7:c.81_83delinsTAAGACT ENSP00000369497.3:p.Ser28LysfsTer4
ENST00000530893.6:n.279_281delinsTAAGACT
ENST00000544455.5:c.81_83delinsTAAGACT ENSP00000439902.1:p.Ser28LysfsTer4
ENST00000614259.1:n.81_83delinsTAAGACT
NM_000059.3:c.81_83delinsTAAGACT , LRG_293t1:c.81_83delinsTAAGACT NP_000050.2:p.Ser28LysfsTer4
XM_011535203.1:c.81_83delinsTAAGACT XP_011533505.1:p.Ser28LysfsTer4
XM_011535204.1:c.81_83delinsTAAGACT XP_011533506.1:p.Ser28LysfsTer4
XM_011535205.1:c.81_83delinsTAAGACT XP_011533507.1:p.Ser28LysfsTer4
NM_000059.4:c.81_83delinsTAAGACT MANE Select NP_000050.3:p.Ser28LysfsTer4