Canonical Allele Identifier: CA2082837025
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398595_32398599delinsAATTT , CM000675.2:g.32398595_32398599delinsAATTT GRCh38
NC_000013.10:g.32972732_32972736delinsAATTT , CM000675.1:g.32972732_32972736delinsAATTT GRCh37
NC_000013.9:g.31870732_31870736delinsAATTT NCBI36
NG_012772.3:g.88116_88120delinsAATTT , LRG_293:g.88116_88120delinsAATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*605_*609delinsAATTT ENSP00000434898.2:n.*605_*609delinsAATTT
ENST00000528762.2:c.*1449_*1453delinsAATTT ENSP00000433168.2:n.*1449_*1453delinsAATTT
ENST00000530893.7:c.9713_9717delinsAATTT ENSP00000499438.2:p.Gln3238=
ENST00000665585.2:c.*1644_*1648delinsAATTT ENSP00000499570.2:n.*1644_*1648delinsAATTT
ENST00000700202.2:c.10031_10035delinsAATTT ENSP00000514856.2:p.Gln3344=
ENST00000700202.1:c.2498_2502delinsAATTT ENSP00000514856.1:p.Gln833=
ENST00000700203.1:n.2209_2213delinsAATTT
ENST00000380152.8:c.10082_10086delinsAATTT MANE Select ENSP00000369497.3:p.Gln3361=
ENST00000544455.6:c.10082_10086delinsAATTT ENSP00000439902.1:p.Gln3361=
ENST00000614259.2:c.10090_10094delinsAATTT ENSP00000506251.1:n.10090_10094delinsAATTT
ENST00000680887.1:c.10082_10086delinsAATTT ENSP00000505508.1:p.Gln3361=
ENST00000380152.7:c.10082_10086delinsAATTT ENSP00000369497.3:p.Gln3361=
ENST00000544455.5:c.10082_10086delinsAATTT ENSP00000439902.1:p.Gln3361=
NM_000059.3:c.10082_10086delinsAATTT , LRG_293t1:c.10082_10086delinsAATTT NP_000050.2:p.Gln3361=
XM_011535203.1:c.10082_10086delinsAATTT XP_011533505.1:p.Gln3361=
XM_011535204.1:c.9986_9990delinsAATTT XP_011533506.1:p.Gln3329=
NM_000059.4:c.10082_10086delinsAATTT MANE Select NP_000050.3:p.Gln3361=