Canonical Allele Identifier: CA026170
Community Standard Title: NM_000059.4(BRCA2):c.9466C>T (p.Gln3156Ter)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394898C>T , CM000675.2:g.32394898C>T GRCh38
NC_000013.10:g.32969035C>T , CM000675.1:g.32969035C>T GRCh37
NC_000013.9:g.31867035C>T NCBI36
NG_012772.3:g.84419C>T , LRG_293:g.84419C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9466C>T MANE Select NP_000050.3:p.Gln3156Ter
ENST00000380152.8:c.9466C>T MANE Select ENSP00000369497.3:p.Gln3156Ter
NM_000059.3:c.9466C>T , LRG_293t1:c.9466C>T NP_000050.2:p.Gln3156Ter
ENST00000380152.7:c.9466C>T ENSP00000369497.3:p.Gln3156Ter
ENST00000470094.1:c.423C>T
ENST00000470094.2:c.9466C>T ENSP00000434898.2:p.Gln3156Ter
ENST00000528762.2:c.*833C>T ENSP00000433168.2:n.*833C>T
ENST00000530893.7:c.9097C>T ENSP00000499438.2:p.Gln3033Ter
ENST00000544455.5:c.9466C>T ENSP00000439902.1:p.Gln3156Ter
ENST00000544455.6:c.9466C>T ENSP00000439902.1:p.Gln3156Ter
ENST00000614259.2:c.9474C>T ENSP00000506251.1:n.9474C>T
ENST00000665585.1:c.2344C>T
ENST00000665585.2:c.*1028C>T ENSP00000499570.2:n.*1028C>T
ENST00000666593.1:c.488C>T ENSP00000499256.1:n.488C>T
ENST00000666593.2:c.*311C>T ENSP00000499256.2:n.*311C>T
ENST00000680887.1:c.9466C>T ENSP00000505508.1:p.Gln3156Ter
ENST00000700202.1:c.1882C>T ENSP00000514856.1:p.Gln628Ter
ENST00000700202.2:c.9415C>T ENSP00000514856.2:p.Gln3139Ter
ENST00000700203.1:n.1593C>T
XM_011535203.1:c.9466C>T XP_011533505.1:p.Gln3156Ter
XM_011535204.1:c.9370C>T XP_011533506.1:p.Gln3124Ter