Canonical Allele Identifier: CA2082833535
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398108_32398111delinsGTTT , CM000675.2:g.32398108_32398111delinsGTTT GRCh38
NC_000013.10:g.32972245_32972248delinsGTTT , CM000675.1:g.32972245_32972248delinsGTTT GRCh37
NC_000013.9:g.31870245_31870248delinsGTTT NCBI36
NG_012772.3:g.87629_87632delinsGTTT , LRG_293:g.87629_87632delinsGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*172-54_*172-51delinsGTTT ENSP00000434898.2:n.*172-54_*172-51delinsGTTT
ENST00000528762.2:c.*1016-54_*1016-51delinsGTTT ENSP00000433168.2:n.*1016-54_*1016-51delinsGTTT
ENST00000530893.7:c.9280-54_9280-51delinsGTTT ENSP00000499438.2:n.9280-54_9280-51delinsGTTT
ENST00000665585.2:c.*1211-54_*1211-51delinsGTTT ENSP00000499570.2:n.*1211-54_*1211-51delinsGTTT
ENST00000700202.2:c.9598-54_9598-51delinsGTTT ENSP00000514856.2:n.9598-54_9598-51delinsGTTT
ENST00000700202.1:c.2065-54_2065-51delinsGTTT ENSP00000514856.1:n.2065-54_2065-51delinsGTTT
ENST00000700203.1:n.1776-54_1776-51delinsGTTT
ENST00000380152.8:c.9649-54_9649-51delinsGTTT MANE Select ENSP00000369497.3:n.9649-54_9649-51delinsGTTT
ENST00000544455.6:c.9649-54_9649-51delinsGTTT ENSP00000439902.1:n.9649-54_9649-51delinsGTTT
ENST00000614259.2:c.9657-54_9657-51delinsGTTT ENSP00000506251.1:n.9657-54_9657-51delinsGTTT
ENST00000665585.1:c.2527-54_2527-51delinsGTTT
ENST00000680887.1:c.9649-54_9649-51delinsGTTT ENSP00000505508.1:n.9649-54_9649-51delinsGTTT
ENST00000380152.7:c.9649-54_9649-51delinsGTTT ENSP00000369497.3:n.9649-54_9649-51delinsGTTT
ENST00000470094.1:c.732-54_732-51delinsGTTT
ENST00000533776.1:n.237-54_237-51delinsGTTT
ENST00000544455.5:c.9649-54_9649-51delinsGTTT ENSP00000439902.1:n.9649-54_9649-51delinsGTTT
NM_000059.3:c.9649-54_9649-51delinsGTTT , LRG_293t1:c.9649-54_9649-51delinsGTTT NP_000050.2:n.9649-54_9649-51delinsGTTT
XM_011535203.1:c.9649-54_9649-51delinsGTTT XP_011533505.1:n.9649-54_9649-51delinsGTTT
XM_011535204.1:c.9553-54_9553-51delinsGTTT XP_011533506.1:n.9553-54_9553-51delinsGTTT
NM_000059.4:c.9649-54_9649-51delinsGTTT MANE Select NP_000050.3:n.9649-54_9649-51delinsGTTT