Canonical Allele Identifier: CA2082759041
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330943_32330946delinsCATG , CM000675.2:g.32330943_32330946delinsCATG GRCh38
NC_000013.10:g.32905080_32905083delinsCATG , CM000675.1:g.32905080_32905083delinsCATG GRCh37
NC_000013.9:g.31803080_31803083delinsCATG NCBI36
NG_012772.3:g.20464_20467delinsCATG , LRG_293:g.20464_20467delinsCATG

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.706_709delinsCATG ENSP00000434898.2:p.His236=
ENST00000528762.2:c.706_709delinsCATG ENSP00000433168.2:p.His236=
ENST00000530893.7:c.337_340delinsCATG ENSP00000499438.2:p.His113=
ENST00000665585.2:c.706_709delinsCATG ENSP00000499570.2:p.His236=
ENST00000666593.2:c.706_709delinsCATG ENSP00000499256.2:p.His236=
ENST00000700202.2:c.706_709delinsCATG ENSP00000514856.2:p.His236=
ENST00000700201.1:c.*485_*488delinsCATG ENSP00000514855.1:n.*485_*488delinsCATG
ENST00000380152.8:c.706_709delinsCATG MANE Select ENSP00000369497.3:p.His236=
ENST00000544455.6:c.706_709delinsCATG ENSP00000439902.1:p.His236=
ENST00000614259.2:c.706_709delinsCATG ENSP00000506251.1:p.His236=
ENST00000680887.1:c.706_709delinsCATG ENSP00000505508.1:p.His236=
ENST00000380152.7:c.706_709delinsCATG ENSP00000369497.3:p.His236=
ENST00000530893.6:n.904_907delinsCATG
ENST00000544455.5:c.706_709delinsCATG ENSP00000439902.1:p.His236=
ENST00000614259.1:n.706_709delinsCATG
NM_000059.3:c.706_709delinsCATG , LRG_293t1:c.706_709delinsCATG NP_000050.2:p.His236=
XM_011535203.1:c.706_709delinsCATG XP_011533505.1:p.His236=
XM_011535204.1:c.706_709delinsCATG XP_011533506.1:p.His236=
XM_011535205.1:c.706_709delinsCATG XP_011533507.1:p.His236=
NM_000059.4:c.706_709delinsCATG MANE Select NP_000050.3:p.His236=