Canonical Allele Identifier: CA2727670765
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137451100

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32326348T>G , CM000675.2:g.32326348T>G GRCh38
NC_000013.10:g.32900485T>G , CM000675.1:g.32900485T>G GRCh37
NC_000013.9:g.31798485T>G NCBI36
NG_012772.3:g.15869T>G , LRG_293:g.15869T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.516+66T>G ENSP00000434898.2:n.516+66T>G
ENST00000528762.2:c.516+66T>G ENSP00000433168.2:n.516+66T>G
ENST00000530893.7:c.147+66T>G ENSP00000499438.2:n.147+66T>G
ENST00000665585.2:c.516+66T>G ENSP00000499570.2:n.516+66T>G
ENST00000666593.2:c.516+66T>G ENSP00000499256.2:n.516+66T>G
ENST00000700202.2:c.516+66T>G ENSP00000514856.2:n.516+66T>G
ENST00000700200.1:n.387+66T>G
ENST00000700201.1:c.*295+66T>G ENSP00000514855.1:n.*295+66T>G
ENST00000380152.8:c.516+66T>G MANE Select ENSP00000369497.3:n.516+66T>G
ENST00000544455.6:c.516+66T>G ENSP00000439902.1:n.516+66T>G
ENST00000614259.2:c.516+66T>G ENSP00000506251.1:n.516+66T>G
ENST00000680887.1:c.516+66T>G ENSP00000505508.1:n.516+66T>G
ENST00000380152.7:c.516+66T>G ENSP00000369497.3:n.516+66T>G
ENST00000530893.6:n.714+66T>G
ENST00000544455.5:c.516+66T>G ENSP00000439902.1:n.516+66T>G
ENST00000614259.1:n.516+66T>G
NM_000059.3:c.516+66T>G , LRG_293t1:c.516+66T>G NP_000050.2:n.516+66T>G
XM_011535203.1:c.516+66T>G XP_011533505.1:n.516+66T>G
XM_011535204.1:c.516+66T>G XP_011533506.1:n.516+66T>G
XM_011535205.1:c.516+66T>G XP_011533507.1:n.516+66T>G
NM_000059.4:c.516+66T>G MANE Select NP_000050.3:n.516+66T>G