Canonical Allele Identifier: CA2082770197
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2072418966

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32333141_32333142insAAA , CM000675.2:g.32333141_32333142insAAA GRCh38
NC_000013.10:g.32907278_32907279insAAA , CM000675.1:g.32907278_32907279insAAA GRCh37
NC_000013.9:g.31805278_31805279insAAA NCBI36
NG_012772.3:g.22662_22663insAAA , LRG_293:g.22662_22663insAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.1663_1664insAAA ENSP00000434898.2:p.Pro555delinsGlnThr
ENST00000528762.2:c.1663_1664insAAA ENSP00000433168.2:p.Pro555delinsGlnThr
ENST00000530893.7:c.1294_1295insAAA ENSP00000499438.2:p.Pro432delinsGlnThr
ENST00000665585.2:c.1663_1664insAAA ENSP00000499570.2:p.Pro555delinsGlnThr
ENST00000666593.2:c.1663_1664insAAA ENSP00000499256.2:p.Pro555delinsGlnThr
ENST00000700202.2:c.1663_1664insAAA ENSP00000514856.2:p.Pro555delinsGlnThr
ENST00000700201.1:c.*1442_*1443insAAA ENSP00000514855.1:n.*1442_*1443insAAA
ENST00000380152.8:c.1663_1664insAAA MANE Select ENSP00000369497.3:p.Pro555delinsGlnThr
ENST00000544455.6:c.1663_1664insAAA ENSP00000439902.1:p.Pro555delinsGlnThr
ENST00000614259.2:c.1663_1664insAAA ENSP00000506251.1:p.Pro555delinsGlnThr
ENST00000680887.1:c.1663_1664insAAA ENSP00000505508.1:p.Pro555delinsGlnThr
ENST00000380152.7:c.1663_1664insAAA ENSP00000369497.3:p.Pro555delinsGlnThr
ENST00000530893.6:n.1861_1862insAAA
ENST00000544455.5:c.1663_1664insAAA ENSP00000439902.1:p.Pro555delinsGlnThr
ENST00000614259.1:n.1663_1664insAAA
NM_000059.3:c.1663_1664insAAA , LRG_293t1:c.1663_1664insAAA NP_000050.2:p.Pro555delinsGlnThr
XM_011535203.1:c.1663_1664insAAA XP_011533505.1:p.Pro555delinsGlnThr
XM_011535204.1:c.1663_1664insAAA XP_011533506.1:p.Pro555delinsGlnThr
XM_011535205.1:c.1663_1664insAAA XP_011533507.1:p.Pro555delinsGlnThr
NM_000059.4:c.1663_1664insAAA MANE Select NP_000050.3:p.Pro555delinsGlnThr