Canonical Allele Identifier: CA387754951
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1764429
ClinVar RCV Id: RCV002373466

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376756G>T , CM000675.2:g.32376756G>T GRCh38
NC_000013.10:g.32950893G>T , CM000675.1:g.32950893G>T GRCh37
NC_000013.9:g.31848893G>T NCBI36
NG_012772.3:g.66277G>T , LRG_293:g.66277G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8719G>T ENSP00000434898.2:p.Ala2907Ser
ENST00000528762.2:c.*86G>T ENSP00000433168.2:n.*86G>T
ENST00000530893.7:c.8350G>T ENSP00000499438.2:p.Ala2784Ser
ENST00000665585.2:c.*281G>T ENSP00000499570.2:n.*281G>T
ENST00000666593.2:c.8719G>T ENSP00000499256.2:p.Ala2907Ser
ENST00000700202.2:c.8719G>T ENSP00000514856.2:p.Ala2907Ser
ENST00000700202.1:c.1186G>T ENSP00000514856.1:p.Ala396Ser
ENST00000700203.1:n.846G>T
ENST00000380152.8:c.8719G>T MANE Select ENSP00000369497.3:p.Ala2907Ser
ENST00000544455.6:c.8719G>T ENSP00000439902.1:p.Ala2907Ser
ENST00000614259.2:c.8727G>T ENSP00000506251.1:n.8727G>T
ENST00000665585.1:c.1597G>T
ENST00000680887.1:c.8719G>T ENSP00000505508.1:p.Ala2907Ser
ENST00000380152.7:c.8719G>T ENSP00000369497.3:p.Ala2907Ser
ENST00000528762.1:c.281G>T ENSP00000433168.1:n.281G>T
ENST00000544455.5:c.8719G>T ENSP00000439902.1:p.Ala2907Ser
NM_000059.3:c.8719G>T , LRG_293t1:c.8719G>T NP_000050.2:p.Ala2907Ser
XM_011535203.1:c.8719G>T XP_011533505.1:p.Ala2907Ser
XM_011535204.1:c.8623G>T XP_011533506.1:p.Ala2875Ser
XM_011535205.1:c.8719G>T XP_011533507.1:p.Ala2907Ser
NM_000059.4:c.8719G>T MANE Select NP_000050.3:p.Ala2907Ser