Canonical Allele Identifier: CA697349057
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1470017658
gnomAD v4: 13-32398028-CCTATT-C
MyVariant Identifiers: chr13:g.32972166_32972170del (hg19) chr13:g.32398029_32398033del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398029_32398033del , CM000675.2:g.32398029_32398033del GRCh38
NC_000013.10:g.32972166_32972170del , CM000675.1:g.32972166_32972170del GRCh37
NC_000013.9:g.31870166_31870170del NCBI36
NG_012772.3:g.87550_87554del , LRG_293:g.87550_87554del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*172-133_*172-129del ENSP00000434898.2:n.*172-133_*172-129del
ENST00000528762.2:c.*1016-133_*1016-129del ENSP00000433168.2:n.*1016-133_*1016-129del
ENST00000530893.7:c.9280-133_9280-129del ENSP00000499438.2:n.9280-133_9280-129del
ENST00000665585.2:c.*1211-133_*1211-129del ENSP00000499570.2:n.*1211-133_*1211-129del
ENST00000700202.2:c.9598-133_9598-129del ENSP00000514856.2:n.9598-133_9598-129del
ENST00000700202.1:c.2065-133_2065-129del ENSP00000514856.1:n.2065-133_2065-129del
ENST00000700203.1:n.1776-133_1776-129del
ENST00000380152.8:c.9649-133_9649-129del MANE Select ENSP00000369497.3:n.9649-133_9649-129del
ENST00000544455.6:c.9649-133_9649-129del ENSP00000439902.1:n.9649-133_9649-129del
ENST00000614259.2:c.9657-133_9657-129del ENSP00000506251.1:n.9657-133_9657-129del
ENST00000665585.1:c.2527-133_2527-129del
ENST00000680887.1:c.9649-133_9649-129del ENSP00000505508.1:n.9649-133_9649-129del
ENST00000380152.7:c.9649-133_9649-129del ENSP00000369497.3:n.9649-133_9649-129del
ENST00000470094.1:c.732-133_732-129del
ENST00000533776.1:n.237-133_237-129del
ENST00000544455.5:c.9649-133_9649-129del ENSP00000439902.1:n.9649-133_9649-129del
NM_000059.3:c.9649-133_9649-129del , LRG_293t1:c.9649-133_9649-129del NP_000050.2:n.9649-133_9649-129del
XM_011535203.1:c.9649-133_9649-129del XP_011533505.1:n.9649-133_9649-129del
XM_011535204.1:c.9553-133_9553-129del XP_011533506.1:n.9553-133_9553-129del
NM_000059.4:c.9649-133_9649-129del MANE Select NP_000050.3:n.9649-133_9649-129del
Search 100 bp 5'
Search 100 bp 3'