Canonical Allele Identifier: CA16614105
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 409454
ClinVar RCV Id: RCV000474731 RCV000661688
dbSNP Id: rs1060502403
MyVariant Identifiers: chr13:g.32906807del (hg19) chr13:g.32332670del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332670del , CM000675.2:g.32332670del GRCh38
NC_000013.10:g.32906807del , CM000675.1:g.32906807del GRCh37
NC_000013.9:g.31804807del NCBI36
NG_012772.3:g.22191del , LRG_293:g.22191del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.1192del ENSP00000434898.2:p.Leu398Ter
ENST00000528762.2:c.1192del ENSP00000433168.2:p.Leu398Ter
ENST00000530893.7:c.823del ENSP00000499438.2:p.Leu275Ter
ENST00000665585.2:c.1192del ENSP00000499570.2:p.Leu398Ter
ENST00000666593.2:c.1192del ENSP00000499256.2:p.Leu398Ter
ENST00000700202.2:c.1192del ENSP00000514856.2:p.Leu398Ter
ENST00000700201.1:c.*971del ENSP00000514855.1:n.*971del
ENST00000380152.8:c.1192del MANE Select ENSP00000369497.3:p.Leu398Ter
ENST00000544455.6:c.1192del ENSP00000439902.1:p.Leu398Ter
ENST00000614259.2:c.1192del ENSP00000506251.1:p.Leu398Ter
ENST00000680887.1:c.1192del ENSP00000505508.1:p.Leu398Ter
ENST00000380152.7:c.1192del ENSP00000369497.3:p.Leu398Ter
ENST00000530893.6:n.1390del
ENST00000544455.5:c.1192del ENSP00000439902.1:p.Leu398Ter
ENST00000614259.1:n.1192del
NM_000059.3:c.1192del , LRG_293t1:c.1192del NP_000050.2:p.Leu398Ter
XM_011535203.1:c.1192del XP_011533505.1:p.Leu398Ter
XM_011535204.1:c.1192del XP_011533506.1:p.Leu398Ter
XM_011535205.1:c.1192del XP_011533507.1:p.Leu398Ter
NM_000059.4:c.1192del MANE Select NP_000050.3:p.Leu398Ter
Search 100 bp 5'
Search 100 bp 3'