Canonical Allele Identifier: CA2082814693
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32370610_32370614delinsATTTG , CM000675.2:g.32370610_32370614delinsATTTG GRCh38
NC_000013.10:g.32944747_32944751delinsATTTG , CM000675.1:g.32944747_32944751delinsATTTG GRCh37
NC_000013.9:g.31842747_31842751delinsATTTG NCBI36
NG_012772.3:g.60131_60135delinsATTTG , LRG_293:g.60131_60135delinsATTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8487+53_8487+57delinsATTTG ENSP00000434898.2:n.8487+53_8487+57delinsATTTG
ENST00000528762.2:c.8487+53_8487+57delinsATTTG ENSP00000433168.2:n.8487+53_8487+57delinsATTTG
ENST00000530893.7:c.8118+53_8118+57delinsATTTG ENSP00000499438.2:n.8118+53_8118+57delinsATTTG
ENST00000665585.2:c.8487+53_8487+57delinsATTTG ENSP00000499570.2:n.8487+53_8487+57delinsATTTG
ENST00000666593.2:c.8487+53_8487+57delinsATTTG ENSP00000499256.2:n.8487+53_8487+57delinsATTTG
ENST00000700202.2:c.8487+53_8487+57delinsATTTG ENSP00000514856.2:n.8487+53_8487+57delinsATTTG
ENST00000700202.1:c.954+53_954+57delinsATTTG ENSP00000514856.1:n.954+53_954+57delinsATTTG
ENST00000380152.8:c.8487+53_8487+57delinsATTTG MANE Select ENSP00000369497.3:n.8487+53_8487+57delinsATTTG
ENST00000544455.6:c.8487+53_8487+57delinsATTTG ENSP00000439902.1:n.8487+53_8487+57delinsATTTG
ENST00000614259.2:c.8495+53_8495+57delinsATTTG ENSP00000506251.1:n.8495+53_8495+57delinsATTTG
ENST00000665585.1:c.1052+53_1052+57delinsATTTG
ENST00000680887.1:c.8487+53_8487+57delinsATTTG ENSP00000505508.1:n.8487+53_8487+57delinsATTTG
ENST00000380152.7:c.8487+53_8487+57delinsATTTG ENSP00000369497.3:n.8487+53_8487+57delinsATTTG
ENST00000544455.5:c.8487+53_8487+57delinsATTTG ENSP00000439902.1:n.8487+53_8487+57delinsATTTG
NM_000059.3:c.8487+53_8487+57delinsATTTG , LRG_293t1:c.8487+53_8487+57delinsATTTG NP_000050.2:n.8487+53_8487+57delinsATTTG
XM_011535203.1:c.8487+53_8487+57delinsATTTG XP_011533505.1:n.8487+53_8487+57delinsATTTG
XM_011535204.1:c.8391+53_8391+57delinsATTTG XP_011533506.1:n.8391+53_8391+57delinsATTTG
XM_011535205.1:c.8487+53_8487+57delinsATTTG XP_011533507.1:n.8487+53_8487+57delinsATTTG
NM_000059.4:c.8487+53_8487+57delinsATTTG MANE Select NP_000050.3:n.8487+53_8487+57delinsATTTG