Canonical Allele Identifier: CA915946947
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 826768
ClinVar RCV Id: RCV001025910
dbSNP Id: rs1593890127

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330937_32330938delinsAT , CM000675.2:g.32330937_32330938delinsAT GRCh38
NC_000013.10:g.32905074_32905075delinsAT , CM000675.1:g.32905074_32905075delinsAT GRCh37
NC_000013.9:g.31803074_31803075delinsAT NCBI36
NG_012772.3:g.20458_20459delinsAT , LRG_293:g.20458_20459delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.700_701delinsAT ENSP00000434898.2:p.Ser234Ile
ENST00000528762.2:c.700_701delinsAT ENSP00000433168.2:p.Ser234Ile
ENST00000530893.7:c.331_332delinsAT ENSP00000499438.2:p.Ser111Ile
ENST00000665585.2:c.700_701delinsAT ENSP00000499570.2:p.Ser234Ile
ENST00000666593.2:c.700_701delinsAT ENSP00000499256.2:p.Ser234Ile
ENST00000700202.2:c.700_701delinsAT ENSP00000514856.2:p.Ser234Ile
ENST00000700201.1:c.*479_*480delinsAT ENSP00000514855.1:n.*479_*480delinsAT
ENST00000380152.8:c.700_701delinsAT MANE Select ENSP00000369497.3:p.Ser234Ile
ENST00000544455.6:c.700_701delinsAT ENSP00000439902.1:p.Ser234Ile
ENST00000614259.2:c.700_701delinsAT ENSP00000506251.1:p.Ser234Ile
ENST00000680887.1:c.700_701delinsAT ENSP00000505508.1:p.Ser234Ile
ENST00000380152.7:c.700_701delinsAT ENSP00000369497.3:p.Ser234Ile
ENST00000530893.6:n.898_899delinsAT
ENST00000544455.5:c.700_701delinsAT ENSP00000439902.1:p.Ser234Ile
ENST00000614259.1:n.700_701delinsAT
NM_000059.3:c.700_701delinsAT , LRG_293t1:c.700_701delinsAT NP_000050.2:p.Ser234Ile
XM_011535203.1:c.700_701delinsAT XP_011533505.1:p.Ser234Ile
XM_011535204.1:c.700_701delinsAT XP_011533506.1:p.Ser234Ile
XM_011535205.1:c.700_701delinsAT XP_011533507.1:p.Ser234Ile
NM_000059.4:c.700_701delinsAT MANE Select NP_000050.3:p.Ser234Ile