Canonical Allele Identifier: CA3261215935
Community Standard Title: NM_000059.4(BRCA2):c.8902_8904delinsGCA (p.Thr2968Ala)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379464_32379466delinsGCA , CM000675.2:g.32379464_32379466delinsGCA GRCh38
NC_000013.10:g.32953601_32953603delinsGCA , CM000675.1:g.32953601_32953603delinsGCA GRCh37
NC_000013.9:g.31851601_31851603delinsGCA NCBI36
NG_012772.3:g.68985_68987delinsGCA , LRG_293:g.68985_68987delinsGCA

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.8902_8904delinsGCA MANE Select NP_000050.3:p.Thr2968Ala
ENST00000380152.8:c.8902_8904delinsGCA MANE Select ENSP00000369497.3:p.Thr2968Ala
NM_000059.3:c.8902_8904delinsGCA , LRG_293t1:c.8902_8904delinsGCA NP_000050.2:p.Thr2968Ala
ENST00000380152.7:c.8902_8904delinsGCA ENSP00000369497.3:p.Thr2968Ala
ENST00000470094.2:c.8902_8904delinsGCA ENSP00000434898.2:p.Thr2968Ala
ENST00000528762.1:c.464_466delinsGCA ENSP00000433168.1:n.464_466delinsGCA
ENST00000528762.2:c.*269_*271delinsGCA ENSP00000433168.2:n.*269_*271delinsGCA
ENST00000530893.7:c.8533_8535delinsGCA ENSP00000499438.2:p.Thr2845Ala
ENST00000544455.5:c.8902_8904delinsGCA ENSP00000439902.1:p.Thr2968Ala
ENST00000544455.6:c.8902_8904delinsGCA ENSP00000439902.1:p.Thr2968Ala
ENST00000614259.2:c.8910_8912delinsGCA ENSP00000506251.1:n.8910_8912delinsGCA
ENST00000665585.1:c.1780_1782delinsGCA
ENST00000665585.2:c.*464_*466delinsGCA ENSP00000499570.2:n.*464_*466delinsGCA
ENST00000666593.2:c.8902_8904delinsGCA ENSP00000499256.2:p.Thr2968Ala
ENST00000680887.1:c.8902_8904delinsGCA ENSP00000505508.1:p.Thr2968Ala
ENST00000700202.1:c.1369_1371delinsGCA ENSP00000514856.1:p.Thr457Ala
ENST00000700202.2:c.8902_8904delinsGCA ENSP00000514856.2:p.Thr2968Ala
ENST00000700203.1:n.1029_1031delinsGCA
XM_011535203.1:c.8902_8904delinsGCA XP_011533505.1:p.Thr2968Ala
XM_011535204.1:c.8806_8808delinsGCA XP_011533506.1:p.Thr2936Ala
XM_011535205.1:c.8755-286_8755-284delinsGCA XP_011533507.1:n.8755-286_8755-284delinsGCA