Canonical Allele Identifier: CA2082810150
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32355101_32355103delinsTCA , CM000675.2:g.32355101_32355103delinsTCA GRCh38
NC_000013.10:g.32929238_32929240delinsTCA , CM000675.1:g.32929238_32929240delinsTCA GRCh37
NC_000013.9:g.31827238_31827240delinsTCA NCBI36
NG_012772.3:g.44622_44624delinsTCA , LRG_293:g.44622_44624delinsTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7248_7250delinsTCA ENSP00000434898.2:p.Phe2416=
ENST00000528762.2:c.7248_7250delinsTCA ENSP00000433168.2:p.Phe2416=
ENST00000530893.7:c.6879_6881delinsTCA ENSP00000499438.2:p.Phe2293=
ENST00000665585.2:c.7248_7250delinsTCA ENSP00000499570.2:p.Phe2416=
ENST00000666593.2:c.7248_7250delinsTCA ENSP00000499256.2:p.Phe2416=
ENST00000700202.2:c.7248_7250delinsTCA ENSP00000514856.2:p.Phe2416=
ENST00000380152.8:c.7248_7250delinsTCA MANE Select ENSP00000369497.3:p.Phe2416=
ENST00000544455.6:c.7248_7250delinsTCA ENSP00000439902.1:p.Phe2416=
ENST00000614259.2:c.7248_7250delinsTCA ENSP00000506251.1:p.Phe2416=
ENST00000680887.1:c.7248_7250delinsTCA ENSP00000505508.1:p.Phe2416=
ENST00000380152.7:c.7248_7250delinsTCA ENSP00000369497.3:p.Phe2416=
ENST00000544455.5:c.7248_7250delinsTCA ENSP00000439902.1:p.Phe2416=
ENST00000614259.1:n.7248_7250delinsTCA
NM_000059.3:c.7248_7250delinsTCA , LRG_293t1:c.7248_7250delinsTCA NP_000050.2:p.Phe2416=
XM_011535203.1:c.7248_7250delinsTCA XP_011533505.1:p.Phe2416=
XM_011535204.1:c.7152_7154delinsTCA XP_011533506.1:p.Phe2384=
XM_011535205.1:c.7248_7250delinsTCA XP_011533507.1:p.Phe2416=
NM_000059.4:c.7248_7250delinsTCA MANE Select NP_000050.3:p.Phe2416=