Canonical Allele Identifier: CA10589553
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 267146
ClinVar RCV Id: RCV000257410
dbSNP Id: rs886040825

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380107_32380108insATTT , CM000675.2:g.32380107_32380108insATTT GRCh38
NC_000013.10:g.32954244_32954245insATTT , CM000675.1:g.32954244_32954245insATTT GRCh37
NC_000013.9:g.31852244_31852245insATTT NCBI36
NG_012772.3:g.69628_69629insATTT , LRG_293:g.69628_69629insATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9218_9219insATTT ENSP00000434898.2:p.Asp3073GlufsTer?
ENST00000528762.2:c.*585_*586insATTT ENSP00000433168.2:n.*585_*586insATTT
ENST00000530893.7:c.8849_8850insATTT ENSP00000499438.2:p.Asp2950GlufsTer?
ENST00000665585.2:c.*780_*781insATTT ENSP00000499570.2:n.*780_*781insATTT
ENST00000666593.2:c.9218_9219insATTT ENSP00000499256.2:p.Asp3073GlufsTer?
ENST00000700202.2:c.9167_9168insATTT ENSP00000514856.2:p.Asp3056GlufsTer?
ENST00000700202.1:c.1634_1635insATTT ENSP00000514856.1:p.Asp545GlufsTer?
ENST00000700203.1:n.1345_1346insATTT
ENST00000380152.8:c.9218_9219insATTT MANE Select ENSP00000369497.3:p.Asp3073GlufsTer?
ENST00000544455.6:c.9218_9219insATTT ENSP00000439902.1:p.Asp3073GlufsTer?
ENST00000614259.2:c.9226_9227insATTT ENSP00000506251.1:n.9226_9227insATTT
ENST00000665585.1:c.2096_2097insATTT
ENST00000666593.1:c.101_102insATTT ENSP00000499256.1:p.Asp34GlufsTer?
ENST00000680887.1:c.9218_9219insATTT ENSP00000505508.1:p.Asp3073GlufsTer?
ENST00000380152.7:c.9218_9219insATTT ENSP00000369497.3:p.Asp3073GlufsTer?
ENST00000470094.1:c.175_176insATTT
ENST00000544455.5:c.9218_9219insATTT ENSP00000439902.1:p.Asp3073GlufsTer?
NM_000059.3:c.9218_9219insATTT , LRG_293t1:c.9218_9219insATTT NP_000050.2:p.Asp3073GlufsTer?
XM_011535203.1:c.9218_9219insATTT XP_011533505.1:p.Asp3073GlufsTer?
XM_011535204.1:c.9122_9123insATTT XP_011533506.1:p.Asp3041GlufsTer?
NM_000059.4:c.9218_9219insATTT MANE Select NP_000050.3:p.Asp3073GlufsTer?