Canonical Allele Identifier: CA3261215972
Community Standard Title: NM_000059.4(BRCA2):c.8368_8370delinsTCA (p.Thr2790Ser)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32370438_32370440delinsTCA , CM000675.2:g.32370438_32370440delinsTCA GRCh38
NC_000013.10:g.32944575_32944577delinsTCA , CM000675.1:g.32944575_32944577delinsTCA GRCh37
NC_000013.9:g.31842575_31842577delinsTCA NCBI36
NG_012772.3:g.59959_59961delinsTCA , LRG_293:g.59959_59961delinsTCA

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.8368_8370delinsTCA MANE Select NP_000050.3:p.Thr2790Ser
ENST00000380152.8:c.8368_8370delinsTCA MANE Select ENSP00000369497.3:p.Thr2790Ser
NM_000059.3:c.8368_8370delinsTCA , LRG_293t1:c.8368_8370delinsTCA NP_000050.2:p.Thr2790Ser
ENST00000380152.7:c.8368_8370delinsTCA ENSP00000369497.3:p.Thr2790Ser
ENST00000470094.2:c.8368_8370delinsTCA ENSP00000434898.2:p.Thr2790Ser
ENST00000528762.2:c.8368_8370delinsTCA ENSP00000433168.2:p.Thr2790Ser
ENST00000530893.7:c.7999_8001delinsTCA ENSP00000499438.2:p.Thr2667Ser
ENST00000544455.5:c.8368_8370delinsTCA ENSP00000439902.1:p.Thr2790Ser
ENST00000544455.6:c.8368_8370delinsTCA ENSP00000439902.1:p.Thr2790Ser
ENST00000614259.2:c.8376_8378delinsTCA ENSP00000506251.1:n.8376_8378delinsTCA
ENST00000665585.1:c.933_935delinsTCA
ENST00000665585.2:c.8368_8370delinsTCA ENSP00000499570.2:p.Thr2790Ser
ENST00000666593.2:c.8368_8370delinsTCA ENSP00000499256.2:p.Thr2790Ser
ENST00000680887.1:c.8368_8370delinsTCA ENSP00000505508.1:p.Thr2790Ser
ENST00000700202.1:c.835_837delinsTCA ENSP00000514856.1:p.Thr279Ser
ENST00000700202.2:c.8368_8370delinsTCA ENSP00000514856.2:p.Thr2790Ser
XM_011535203.1:c.8368_8370delinsTCA XP_011533505.1:p.Thr2790Ser
XM_011535204.1:c.8272_8274delinsTCA XP_011533506.1:p.Thr2758Ser
XM_011535205.1:c.8368_8370delinsTCA XP_011533507.1:p.Thr2790Ser