Canonical Allele Identifier: CA025051
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 182319
ClinVar RCV Id: RCV000160304
dbSNP Id: rs730881612

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32355233_32355234insG , CM000675.2:g.32355233_32355234insG GRCh38
NC_000013.10:g.32929370_32929371insG , CM000675.1:g.32929370_32929371insG GRCh37
NC_000013.9:g.31827370_31827371insG NCBI36
NG_012772.3:g.44754_44755insG , LRG_293:g.44754_44755insG

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7380_7381insG ENSP00000434898.2:p.Asn2461GlufsTer14
ENST00000528762.2:c.7380_7381insG ENSP00000433168.2:p.Asn2461GlufsTer14
ENST00000530893.7:c.7011_7012insG ENSP00000499438.2:p.Asn2338GlufsTer14
ENST00000665585.2:c.7380_7381insG ENSP00000499570.2:p.Asn2461GlufsTer14
ENST00000666593.2:c.7380_7381insG ENSP00000499256.2:p.Asn2461GlufsTer14
ENST00000700202.2:c.7380_7381insG ENSP00000514856.2:p.Asn2461GlufsTer14
ENST00000380152.8:c.7380_7381insG MANE Select ENSP00000369497.3:p.Asn2461GlufsTer14
ENST00000544455.6:c.7380_7381insG ENSP00000439902.1:p.Asn2461GlufsTer14
ENST00000614259.2:c.7380_7381insG ENSP00000506251.1:p.Asn2461GlufsTer14
ENST00000680887.1:c.7380_7381insG ENSP00000505508.1:p.Asn2461GlufsTer14
ENST00000380152.7:c.7380_7381insG ENSP00000369497.3:p.Asn2461GlufsTer14
ENST00000544455.5:c.7380_7381insG ENSP00000439902.1:p.Asn2461GlufsTer14
ENST00000614259.1:n.7380_7381insG
NM_000059.3:c.7380_7381insG , LRG_293t1:c.7380_7381insG NP_000050.2:p.Asn2461GlufsTer14
XM_011535203.1:c.7380_7381insG XP_011533505.1:p.Asn2461GlufsTer14
XM_011535204.1:c.7284_7285insG XP_011533506.1:p.Asn2429GlufsTer14
XM_011535205.1:c.7380_7381insG XP_011533507.1:p.Asn2461GlufsTer14
NM_000059.4:c.7380_7381insG MANE Select NP_000050.3:p.Asn2461GlufsTer14