Canonical Allele Identifier: CA2082815649
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2072699929

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32356598_32356599insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA , CM000675.2:g.32356598_32356599insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA GRCh38
NC_000013.10:g.32930735_32930736insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA , CM000675.1:g.32930735_32930736insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA GRCh37
NC_000013.9:g.31828735_31828736insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA NCBI36
NG_012772.3:g.46119_46120insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA , LRG_293:g.46119_46120insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA ENSP00000434898.2:p.Ser2536TyrfsTer7
ENST00000528762.2:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA ENSP00000433168.2:p.Ser2536TyrfsTer7
ENST00000530893.7:c.7237_7238insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA ENSP00000499438.2:p.Ser2413TyrfsTer7
ENST00000665585.2:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA ENSP00000499570.2:p.Ser2536TyrfsTer7
ENST00000666593.2:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA ENSP00000499256.2:p.Ser2536TyrfsTer7
ENST00000700202.2:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA ENSP00000514856.2:p.Ser2536TyrfsTer7
ENST00000700202.1:c.73_74insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA ENSP00000514856.1:p.Ser25TyrfsTer7
ENST00000380152.8:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA MANE Select ENSP00000369497.3:p.Ser2536TyrfsTer7
ENST00000544455.6:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA ENSP00000439902.1:p.Ser2536TyrfsTer7
ENST00000614259.2:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA ENSP00000506251.1:p.Ser2536TyrfsTer7
ENST00000665585.1:c.171_172insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA
ENST00000680887.1:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA ENSP00000505508.1:p.Ser2536TyrfsTer7
ENST00000380152.7:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA ENSP00000369497.3:p.Ser2536TyrfsTer7
ENST00000544455.5:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA ENSP00000439902.1:p.Ser2536TyrfsTer7
ENST00000614259.1:n.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA
NM_000059.3:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA , LRG_293t1:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA NP_000050.2:p.Ser2536TyrfsTer7
XM_011535203.1:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA XP_011533505.1:p.Ser2536TyrfsTer7
XM_011535204.1:c.7510_7511insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA XP_011533506.1:p.Ser2504TyrfsTer7
XM_011535205.1:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA XP_011533507.1:p.Ser2536TyrfsTer7
NM_000059.4:c.7606_7607insACCCGAGCTCTTCACCGTGACCTCGGCGGAGTATGAAGCGATGCA MANE Select NP_000050.3:p.Ser2536TyrfsTer7