Canonical Allele Identifier: CA2082816134
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371043_32371045delinsCAA , CM000675.2:g.32371043_32371045delinsCAA GRCh38
NC_000013.10:g.32945180_32945182delinsCAA , CM000675.1:g.32945180_32945182delinsCAA GRCh37
NC_000013.9:g.31843180_31843182delinsCAA NCBI36
NG_012772.3:g.60564_60566delinsCAA , LRG_293:g.60564_60566delinsCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8575_8577delinsCAA ENSP00000434898.2:p.Gln2859=
ENST00000528762.2:c.8575_8577delinsCAA ENSP00000433168.2:p.Gln2859=
ENST00000530893.7:c.8206_8208delinsCAA ENSP00000499438.2:p.Gln2736=
ENST00000665585.2:c.8575_8577delinsCAA ENSP00000499570.2:p.Gln2859=
ENST00000666593.2:c.8575_8577delinsCAA ENSP00000499256.2:p.Gln2859=
ENST00000700202.2:c.8575_8577delinsCAA ENSP00000514856.2:p.Gln2859=
ENST00000700202.1:c.1042_1044delinsCAA ENSP00000514856.1:p.Gln348=
ENST00000380152.8:c.8575_8577delinsCAA MANE Select ENSP00000369497.3:p.Gln2859=
ENST00000544455.6:c.8575_8577delinsCAA ENSP00000439902.1:p.Gln2859=
ENST00000614259.2:c.8583_8585delinsCAA ENSP00000506251.1:n.8583_8585delinsCAA
ENST00000665585.1:c.1140_1142delinsCAA
ENST00000680887.1:c.8575_8577delinsCAA ENSP00000505508.1:p.Gln2859=
ENST00000380152.7:c.8575_8577delinsCAA ENSP00000369497.3:p.Gln2859=
ENST00000528762.1:c.73_75delinsCAA ENSP00000433168.1:p.Gln25=
ENST00000544455.5:c.8575_8577delinsCAA ENSP00000439902.1:p.Gln2859=
NM_000059.3:c.8575_8577delinsCAA , LRG_293t1:c.8575_8577delinsCAA NP_000050.2:p.Gln2859=
XM_011535203.1:c.8575_8577delinsCAA XP_011533505.1:p.Gln2859=
XM_011535204.1:c.8479_8481delinsCAA XP_011533506.1:p.Gln2827=
XM_011535205.1:c.8575_8577delinsCAA XP_011533507.1:p.Gln2859=
NM_000059.4:c.8575_8577delinsCAA MANE Select NP_000050.3:p.Gln2859=