Canonical Allele Identifier: CA2082759482
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330991_32330993delinsGAC , CM000675.2:g.32330991_32330993delinsGAC GRCh38
NC_000013.10:g.32905128_32905130delinsGAC , CM000675.1:g.32905128_32905130delinsGAC GRCh37
NC_000013.9:g.31803128_31803130delinsGAC NCBI36
NG_012772.3:g.20512_20514delinsGAC , LRG_293:g.20512_20514delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.754_756delinsGAC ENSP00000434898.2:p.Asp252=
ENST00000528762.2:c.754_756delinsGAC ENSP00000433168.2:p.Asp252=
ENST00000530893.7:c.385_387delinsGAC ENSP00000499438.2:p.Asp129=
ENST00000665585.2:c.754_756delinsGAC ENSP00000499570.2:p.Asp252=
ENST00000666593.2:c.754_756delinsGAC ENSP00000499256.2:p.Asp252=
ENST00000700202.2:c.754_756delinsGAC ENSP00000514856.2:p.Asp252=
ENST00000700201.1:c.*533_*535delinsGAC ENSP00000514855.1:n.*533_*535delinsGAC
ENST00000380152.8:c.754_756delinsGAC MANE Select ENSP00000369497.3:p.Asp252=
ENST00000544455.6:c.754_756delinsGAC ENSP00000439902.1:p.Asp252=
ENST00000614259.2:c.754_756delinsGAC ENSP00000506251.1:p.Asp252=
ENST00000680887.1:c.754_756delinsGAC ENSP00000505508.1:p.Asp252=
ENST00000380152.7:c.754_756delinsGAC ENSP00000369497.3:p.Asp252=
ENST00000530893.6:n.952_954delinsGAC
ENST00000544455.5:c.754_756delinsGAC ENSP00000439902.1:p.Asp252=
ENST00000614259.1:n.754_756delinsGAC
NM_000059.3:c.754_756delinsGAC , LRG_293t1:c.754_756delinsGAC NP_000050.2:p.Asp252=
XM_011535203.1:c.754_756delinsGAC XP_011533505.1:p.Asp252=
XM_011535204.1:c.754_756delinsGAC XP_011533506.1:p.Asp252=
XM_011535205.1:c.754_756delinsGAC XP_011533507.1:p.Asp252=
NM_000059.4:c.754_756delinsGAC MANE Select NP_000050.3:p.Asp252=