Canonical Allele Identifier: CA2082835751
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398398_32398399delinsGA , CM000675.2:g.32398398_32398399delinsGA GRCh38
NC_000013.10:g.32972535_32972536delinsGA , CM000675.1:g.32972535_32972536delinsGA GRCh37
NC_000013.9:g.31870535_31870536delinsGA NCBI36
NG_012772.3:g.87919_87920delinsGA , LRG_293:g.87919_87920delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*408_*409delinsGA ENSP00000434898.2:n.*408_*409delinsGA
ENST00000528762.2:c.*1252_*1253delinsGA ENSP00000433168.2:n.*1252_*1253delinsGA
ENST00000530893.7:c.9516_9517delinsGA ENSP00000499438.2:p.Gln3172=
ENST00000665585.2:c.*1447_*1448delinsGA ENSP00000499570.2:n.*1447_*1448delinsGA
ENST00000700202.2:c.9834_9835delinsGA ENSP00000514856.2:p.Gln3278=
ENST00000700202.1:c.2301_2302delinsGA ENSP00000514856.1:p.Gln767=
ENST00000700203.1:n.2012_2013delinsGA
ENST00000380152.8:c.9885_9886delinsGA MANE Select ENSP00000369497.3:p.Gln3295=
ENST00000544455.6:c.9885_9886delinsGA ENSP00000439902.1:p.Gln3295=
ENST00000614259.2:c.9893_9894delinsGA ENSP00000506251.1:n.9893_9894delinsGA
ENST00000680887.1:c.9885_9886delinsGA ENSP00000505508.1:p.Gln3295=
ENST00000380152.7:c.9885_9886delinsGA ENSP00000369497.3:p.Gln3295=
ENST00000533776.1:n.473_474delinsGA
ENST00000544455.5:c.9885_9886delinsGA ENSP00000439902.1:p.Gln3295=
NM_000059.3:c.9885_9886delinsGA , LRG_293t1:c.9885_9886delinsGA NP_000050.2:p.Gln3295=
XM_011535203.1:c.9885_9886delinsGA XP_011533505.1:p.Gln3295=
XM_011535204.1:c.9789_9790delinsGA XP_011533506.1:p.Gln3263=
NM_000059.4:c.9885_9886delinsGA MANE Select NP_000050.3:p.Gln3295=