Canonical Allele Identifier: CA2082751702
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32326503_32326504delinsGT , CM000675.2:g.32326503_32326504delinsGT GRCh38
NC_000013.10:g.32900640_32900641delinsGT , CM000675.1:g.32900640_32900641delinsGT GRCh37
NC_000013.9:g.31798640_31798641delinsGT NCBI36
NG_012772.3:g.16024_16025delinsGT , LRG_293:g.16024_16025delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.521_522delinsGT ENSP00000434898.2:p.Arg174=
ENST00000528762.2:c.521_522delinsGT ENSP00000433168.2:p.Arg174=
ENST00000530893.7:c.152_153delinsGT ENSP00000499438.2:p.Arg51=
ENST00000665585.2:c.521_522delinsGT ENSP00000499570.2:p.Arg174=
ENST00000666593.2:c.521_522delinsGT ENSP00000499256.2:p.Arg174=
ENST00000700202.2:c.521_522delinsGT ENSP00000514856.2:p.Arg174=
ENST00000700200.1:n.392_393delinsGT
ENST00000700201.1:c.*300_*301delinsGT ENSP00000514855.1:n.*300_*301delinsGT
ENST00000380152.8:c.521_522delinsGT MANE Select ENSP00000369497.3:p.Arg174=
ENST00000544455.6:c.521_522delinsGT ENSP00000439902.1:p.Arg174=
ENST00000614259.2:c.521_522delinsGT ENSP00000506251.1:p.Arg174=
ENST00000680887.1:c.521_522delinsGT ENSP00000505508.1:p.Arg174=
ENST00000380152.7:c.521_522delinsGT ENSP00000369497.3:p.Arg174=
ENST00000530893.6:n.719_720delinsGT
ENST00000544455.5:c.521_522delinsGT ENSP00000439902.1:p.Arg174=
ENST00000614259.1:n.521_522delinsGT
NM_000059.3:c.521_522delinsGT , LRG_293t1:c.521_522delinsGT NP_000050.2:p.Arg174=
XM_011535203.1:c.521_522delinsGT XP_011533505.1:p.Arg174=
XM_011535204.1:c.521_522delinsGT XP_011533506.1:p.Arg174=
XM_011535205.1:c.521_522delinsGT XP_011533507.1:p.Arg174=
NM_000059.4:c.521_522delinsGT MANE Select NP_000050.3:p.Arg174=