Canonical Allele Identifier: CA2082815520
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32370985_32370986delinsCA , CM000675.2:g.32370985_32370986delinsCA GRCh38
NC_000013.10:g.32945122_32945123delinsCA , CM000675.1:g.32945122_32945123delinsCA GRCh37
NC_000013.9:g.31843122_31843123delinsCA NCBI36
NG_012772.3:g.60506_60507delinsCA , LRG_293:g.60506_60507delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8517_8518delinsCA ENSP00000434898.2:p.Tyr2839=
ENST00000528762.2:c.8517_8518delinsCA ENSP00000433168.2:p.Tyr2839=
ENST00000530893.7:c.8148_8149delinsCA ENSP00000499438.2:p.Tyr2716=
ENST00000665585.2:c.8517_8518delinsCA ENSP00000499570.2:p.Tyr2839=
ENST00000666593.2:c.8517_8518delinsCA ENSP00000499256.2:p.Tyr2839=
ENST00000700202.2:c.8517_8518delinsCA ENSP00000514856.2:p.Tyr2839=
ENST00000700202.1:c.984_985delinsCA ENSP00000514856.1:p.Tyr328=
ENST00000380152.8:c.8517_8518delinsCA MANE Select ENSP00000369497.3:p.Tyr2839=
ENST00000544455.6:c.8517_8518delinsCA ENSP00000439902.1:p.Tyr2839=
ENST00000614259.2:c.8525_8526delinsCA ENSP00000506251.1:n.8525_8526delinsCA
ENST00000665585.1:c.1082_1083delinsCA
ENST00000680887.1:c.8517_8518delinsCA ENSP00000505508.1:p.Tyr2839=
ENST00000380152.7:c.8517_8518delinsCA ENSP00000369497.3:p.Tyr2839=
ENST00000528762.1:c.15_16delinsCA ENSP00000433168.1:p.Tyr5=
ENST00000544455.5:c.8517_8518delinsCA ENSP00000439902.1:p.Tyr2839=
NM_000059.3:c.8517_8518delinsCA , LRG_293t1:c.8517_8518delinsCA NP_000050.2:p.Tyr2839=
XM_011535203.1:c.8517_8518delinsCA XP_011533505.1:p.Tyr2839=
XM_011535204.1:c.8421_8422delinsCA XP_011533506.1:p.Tyr2807=
XM_011535205.1:c.8517_8518delinsCA XP_011533507.1:p.Tyr2839=
NM_000059.4:c.8517_8518delinsCA MANE Select NP_000050.3:p.Tyr2839=