Canonical Allele Identifier: CA6941328
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 409567
dbSNP Id: rs770449225

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379786A>G , CM000675.2:g.32379786A>G GRCh38
NC_000013.10:g.32953923A>G , CM000675.1:g.32953923A>G GRCh37
NC_000013.9:g.31851923A>G NCBI36
NG_012772.3:g.69307A>G , LRG_293:g.69307A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8990A>G ENSP00000434898.2:p.Tyr2997Cys
ENST00000528762.2:c.*357A>G ENSP00000433168.2:n.*357A>G
ENST00000530893.7:c.8621A>G ENSP00000499438.2:p.Tyr2874Cys
ENST00000665585.2:c.*552A>G ENSP00000499570.2:n.*552A>G
ENST00000666593.2:c.8990A>G ENSP00000499256.2:p.Tyr2997Cys
ENST00000700202.2:c.8954-15A>G ENSP00000514856.2:n.8954-15A>G
ENST00000700202.1:c.1421-15A>G ENSP00000514856.1:n.1421-15A>G
ENST00000700203.1:n.1117A>G
ENST00000380152.8:c.8990A>G MANE Select ENSP00000369497.3:p.Tyr2997Cys
ENST00000544455.6:c.8990A>G ENSP00000439902.1:p.Tyr2997Cys
ENST00000614259.2:c.8998A>G ENSP00000506251.1:n.8998A>G
ENST00000665585.1:c.1868A>G
ENST00000680887.1:c.8990A>G ENSP00000505508.1:p.Tyr2997Cys
ENST00000380152.7:c.8990A>G ENSP00000369497.3:p.Tyr2997Cys
ENST00000544455.5:c.8990A>G ENSP00000439902.1:p.Tyr2997Cys
NM_000059.3:c.8990A>G , LRG_293t1:c.8990A>G NP_000050.2:p.Tyr2997Cys
XM_011535203.1:c.8990A>G XP_011533505.1:p.Tyr2997Cys
XM_011535204.1:c.8894A>G XP_011533506.1:p.Tyr2965Cys
XM_011535205.1:c.*28A>G XP_011533507.1:n.*28A>G
NM_000059.4:c.8990A>G MANE Select NP_000050.3:p.Tyr2997Cys