Canonical Allele Identifier: CA2082815699
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371012_32371016delinsAAAGG , CM000675.2:g.32371012_32371016delinsAAAGG GRCh38
NC_000013.10:g.32945149_32945153delinsAAAGG , CM000675.1:g.32945149_32945153delinsAAAGG GRCh37
NC_000013.9:g.31843149_31843153delinsAAAGG NCBI36
NG_012772.3:g.60533_60537delinsAAAGG , LRG_293:g.60533_60537delinsAAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8544_8548delinsAAAGG ENSP00000434898.2:p.Glu2848=
ENST00000528762.2:c.8544_8548delinsAAAGG ENSP00000433168.2:p.Glu2848=
ENST00000530893.7:c.8175_8179delinsAAAGG ENSP00000499438.2:p.Glu2725=
ENST00000665585.2:c.8544_8548delinsAAAGG ENSP00000499570.2:p.Glu2848=
ENST00000666593.2:c.8544_8548delinsAAAGG ENSP00000499256.2:p.Glu2848=
ENST00000700202.2:c.8544_8548delinsAAAGG ENSP00000514856.2:p.Glu2848=
ENST00000700202.1:c.1011_1015delinsAAAGG ENSP00000514856.1:p.Glu337=
ENST00000380152.8:c.8544_8548delinsAAAGG MANE Select ENSP00000369497.3:p.Glu2848=
ENST00000544455.6:c.8544_8548delinsAAAGG ENSP00000439902.1:p.Glu2848=
ENST00000614259.2:c.8552_8556delinsAAAGG ENSP00000506251.1:n.8552_8556delinsAAAGG
ENST00000665585.1:c.1109_1113delinsAAAGG
ENST00000680887.1:c.8544_8548delinsAAAGG ENSP00000505508.1:p.Glu2848=
ENST00000380152.7:c.8544_8548delinsAAAGG ENSP00000369497.3:p.Glu2848=
ENST00000528762.1:c.42_46delinsAAAGG ENSP00000433168.1:p.Glu14=
ENST00000544455.5:c.8544_8548delinsAAAGG ENSP00000439902.1:p.Glu2848=
NM_000059.3:c.8544_8548delinsAAAGG , LRG_293t1:c.8544_8548delinsAAAGG NP_000050.2:p.Glu2848=
XM_011535203.1:c.8544_8548delinsAAAGG XP_011533505.1:p.Glu2848=
XM_011535204.1:c.8448_8452delinsAAAGG XP_011533506.1:p.Glu2816=
XM_011535205.1:c.8544_8548delinsAAAGG XP_011533507.1:p.Glu2848=
NM_000059.4:c.8544_8548delinsAAAGG MANE Select NP_000050.3:p.Glu2848=