Canonical Allele Identifier: CA387765999
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137663849

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398303A>G , CM000675.2:g.32398303A>G GRCh38
NC_000013.10:g.32972440A>G , CM000675.1:g.32972440A>G GRCh37
NC_000013.9:g.31870440A>G NCBI36
NG_012772.3:g.87824A>G , LRG_293:g.87824A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*313A>G ENSP00000434898.2:n.*313A>G
ENST00000528762.2:c.*1157A>G ENSP00000433168.2:n.*1157A>G
ENST00000530893.7:c.9421A>G ENSP00000499438.2:p.Asn3141Asp
ENST00000665585.2:c.*1352A>G ENSP00000499570.2:n.*1352A>G
ENST00000700202.2:c.9739A>G ENSP00000514856.2:p.Asn3247Asp
ENST00000700202.1:c.2206A>G ENSP00000514856.1:p.Asn736Asp
ENST00000700203.1:n.1917A>G
ENST00000380152.8:c.9790A>G MANE Select ENSP00000369497.3:p.Asn3264Asp
ENST00000544455.6:c.9790A>G ENSP00000439902.1:p.Asn3264Asp
ENST00000614259.2:c.9798A>G ENSP00000506251.1:n.9798A>G
ENST00000680887.1:c.9790A>G ENSP00000505508.1:p.Asn3264Asp
ENST00000380152.7:c.9790A>G ENSP00000369497.3:p.Asn3264Asp
ENST00000533776.1:n.378A>G
ENST00000544455.5:c.9790A>G ENSP00000439902.1:p.Asn3264Asp
NM_000059.3:c.9790A>G , LRG_293t1:c.9790A>G NP_000050.2:p.Asn3264Asp
XM_011535203.1:c.9790A>G XP_011533505.1:p.Asn3264Asp
XM_011535204.1:c.9694A>G XP_011533506.1:p.Asn3232Asp
NM_000059.4:c.9790A>G MANE Select NP_000050.3:p.Asn3264Asp