Canonical Allele Identifier: CA387763264
Gene: BRCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32396956A>T , CM000675.2:g.32396956A>T GRCh38
NC_000013.10:g.32971093A>T , CM000675.1:g.32971093A>T GRCh37
NC_000013.9:g.31869093A>T NCBI36
NG_012772.3:g.86477A>T , LRG_293:g.86477A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*83A>T ENSP00000434898.2:n.*83A>T
ENST00000528762.2:c.*927A>T ENSP00000433168.2:n.*927A>T
ENST00000530893.7:c.9191A>T ENSP00000499438.2:p.Asn3064Ile
ENST00000665585.2:c.*1122A>T ENSP00000499570.2:n.*1122A>T
ENST00000700202.2:c.9509A>T ENSP00000514856.2:p.Asn3170Ile
ENST00000700202.1:c.1976A>T ENSP00000514856.1:p.Asn659Ile
ENST00000700203.1:n.1687A>T
ENST00000380152.8:c.9560A>T MANE Select ENSP00000369497.3:p.Asn3187Ile
ENST00000544455.6:c.9560A>T ENSP00000439902.1:p.Asn3187Ile
ENST00000614259.2:c.9568A>T ENSP00000506251.1:n.9568A>T
ENST00000665585.1:c.2438A>T
ENST00000680887.1:c.9560A>T ENSP00000505508.1:p.Asn3187Ile
ENST00000380152.7:c.9560A>T ENSP00000369497.3:p.Asn3187Ile
ENST00000470094.1:c.643A>T
ENST00000533776.1:n.148A>T
ENST00000544455.5:c.9560A>T ENSP00000439902.1:p.Asn3187Ile
NM_000059.3:c.9560A>T , LRG_293t1:c.9560A>T NP_000050.2:p.Asn3187Ile
XM_011535203.1:c.9560A>T XP_011533505.1:p.Asn3187Ile
XM_011535204.1:c.9464A>T XP_011533506.1:p.Asn3155Ile
NM_000059.4:c.9560A>T MANE Select NP_000050.3:p.Asn3187Ile