Canonical Allele Identifier: CA2082835638
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398381_32398382delinsGT , CM000675.2:g.32398381_32398382delinsGT GRCh38
NC_000013.10:g.32972518_32972519delinsGT , CM000675.1:g.32972518_32972519delinsGT GRCh37
NC_000013.9:g.31870518_31870519delinsGT NCBI36
NG_012772.3:g.87902_87903delinsGT , LRG_293:g.87902_87903delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*391_*392delinsGT ENSP00000434898.2:n.*391_*392delinsGT
ENST00000528762.2:c.*1235_*1236delinsGT ENSP00000433168.2:n.*1235_*1236delinsGT
ENST00000530893.7:c.9499_9500delinsGT ENSP00000499438.2:p.Val3167=
ENST00000665585.2:c.*1430_*1431delinsGT ENSP00000499570.2:n.*1430_*1431delinsGT
ENST00000700202.2:c.9817_9818delinsGT ENSP00000514856.2:p.Val3273=
ENST00000700202.1:c.2284_2285delinsGT ENSP00000514856.1:p.Val762=
ENST00000700203.1:n.1995_1996delinsGT
ENST00000380152.8:c.9868_9869delinsGT MANE Select ENSP00000369497.3:p.Val3290=
ENST00000544455.6:c.9868_9869delinsGT ENSP00000439902.1:p.Val3290=
ENST00000614259.2:c.9876_9877delinsGT ENSP00000506251.1:n.9876_9877delinsGT
ENST00000680887.1:c.9868_9869delinsGT ENSP00000505508.1:p.Val3290=
ENST00000380152.7:c.9868_9869delinsGT ENSP00000369497.3:p.Val3290=
ENST00000533776.1:n.456_457delinsGT
ENST00000544455.5:c.9868_9869delinsGT ENSP00000439902.1:p.Val3290=
NM_000059.3:c.9868_9869delinsGT , LRG_293t1:c.9868_9869delinsGT NP_000050.2:p.Val3290=
XM_011535203.1:c.9868_9869delinsGT XP_011533505.1:p.Val3290=
XM_011535204.1:c.9772_9773delinsGT XP_011533506.1:p.Val3258=
NM_000059.4:c.9868_9869delinsGT MANE Select NP_000050.3:p.Val3290=