Canonical Allele Identifier: CA2798720376
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380192_32380193insTAT , CM000675.2:g.32380192_32380193insTAT GRCh38
NC_000013.10:g.32954329_32954330insTAT , CM000675.1:g.32954329_32954330insTAT GRCh37
NC_000013.9:g.31852329_31852330insTAT NCBI36
NG_012772.3:g.69713_69714insTAT , LRG_293:g.69713_69714insTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9256+47_9256+48insTAT ENSP00000434898.2:n.9256+47_9256+48insTAT
ENST00000528762.2:c.*623+47_*623+48insTAT ENSP00000433168.2:n.*623+47_*623+48insTAT
ENST00000530893.7:c.8887+47_8887+48insTAT ENSP00000499438.2:n.8887+47_8887+48insTAT
ENST00000665585.2:c.*818+47_*818+48insTAT ENSP00000499570.2:n.*818+47_*818+48insTAT
ENST00000666593.2:c.9256+47_9256+48insTAT ENSP00000499256.2:n.9256+47_9256+48insTAT
ENST00000700202.2:c.9205+47_9205+48insTAT ENSP00000514856.2:n.9205+47_9205+48insTAT
ENST00000700202.1:c.1672+47_1672+48insTAT ENSP00000514856.1:n.1672+47_1672+48insTAT
ENST00000700203.1:n.1383+47_1383+48insTAT
ENST00000380152.8:c.9256+47_9256+48insTAT MANE Select ENSP00000369497.3:n.9256+47_9256+48insTAT
ENST00000544455.6:c.9256+47_9256+48insTAT ENSP00000439902.1:n.9256+47_9256+48insTAT
ENST00000614259.2:c.9264+47_9264+48insTAT ENSP00000506251.1:n.9264+47_9264+48insTAT
ENST00000665585.1:c.2134+47_2134+48insTAT
ENST00000666593.1:c.139+47_139+48insTAT ENSP00000499256.1:n.139+47_139+48insTAT
ENST00000680887.1:c.9256+47_9256+48insTAT ENSP00000505508.1:n.9256+47_9256+48insTAT
ENST00000380152.7:c.9256+47_9256+48insTAT ENSP00000369497.3:n.9256+47_9256+48insTAT
ENST00000470094.1:c.213+47_213+48insTAT
ENST00000544455.5:c.9256+47_9256+48insTAT ENSP00000439902.1:n.9256+47_9256+48insTAT
NM_000059.3:c.9256+47_9256+48insTAT , LRG_293t1:c.9256+47_9256+48insTAT NP_000050.2:n.9256+47_9256+48insTAT
XM_011535203.1:c.9256+47_9256+48insTAT XP_011533505.1:n.9256+47_9256+48insTAT
XM_011535204.1:c.9160+47_9160+48insTAT XP_011533506.1:n.9160+47_9160+48insTAT
NM_000059.4:c.9256+47_9256+48insTAT MANE Select NP_000050.3:n.9256+47_9256+48insTAT