Canonical Allele Identifier: CA2082749822
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32326106_32326111delinsTTGTTC , CM000675.2:g.32326106_32326111delinsTTGTTC GRCh38
NC_000013.10:g.32900243_32900248delinsTTGTTC , CM000675.1:g.32900243_32900248delinsTTGTTC GRCh37
NC_000013.9:g.31798243_31798248delinsTTGTTC NCBI36
NG_012772.3:g.15627_15632delinsTTGTTC , LRG_293:g.15627_15632delinsTTGTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.431_436delinsTTGTTC ENSP00000434898.2:p.Val144=
ENST00000528762.2:c.431_436delinsTTGTTC ENSP00000433168.2:p.Val144=
ENST00000530893.7:c.62_67delinsTTGTTC ENSP00000499438.2:p.Val21=
ENST00000665585.2:c.431_436delinsTTGTTC ENSP00000499570.2:p.Val144=
ENST00000666593.2:c.431_436delinsTTGTTC ENSP00000499256.2:p.Val144=
ENST00000700202.2:c.431_436delinsTTGTTC ENSP00000514856.2:p.Val144=
ENST00000700200.1:n.302_307delinsTTGTTC
ENST00000700201.1:c.*210_*215delinsTTGTTC ENSP00000514855.1:n.*210_*215delinsTTGTTC
ENST00000380152.8:c.431_436delinsTTGTTC MANE Select ENSP00000369497.3:p.Val144=
ENST00000544455.6:c.431_436delinsTTGTTC ENSP00000439902.1:p.Val144=
ENST00000614259.2:c.431_436delinsTTGTTC ENSP00000506251.1:p.Val144=
ENST00000680887.1:c.431_436delinsTTGTTC ENSP00000505508.1:p.Val144=
ENST00000380152.7:c.431_436delinsTTGTTC ENSP00000369497.3:p.Val144=
ENST00000530893.6:n.629_634delinsTTGTTC
ENST00000544455.5:c.431_436delinsTTGTTC ENSP00000439902.1:p.Val144=
ENST00000614259.1:n.431_436delinsTTGTTC
NM_000059.3:c.431_436delinsTTGTTC , LRG_293t1:c.431_436delinsTTGTTC NP_000050.2:p.Val144=
XM_011535203.1:c.431_436delinsTTGTTC XP_011533505.1:p.Val144=
XM_011535204.1:c.431_436delinsTTGTTC XP_011533506.1:p.Val144=
XM_011535205.1:c.431_436delinsTTGTTC XP_011533507.1:p.Val144=
NM_000059.4:c.431_436delinsTTGTTC MANE Select NP_000050.3:p.Val144=