Canonical Allele Identifier: CA1139663046
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 635874
ClinVar RCV Id: RCV003155958

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32318725_32323439del , CM000675.2:g.32318725_32323439del GRCh38
NC_000013.10:g.32892862_32897576del , CM000675.1:g.32892862_32897576del GRCh37
NC_000013.9:g.31790862_31795576del NCBI36
NG_012772.3:g.8246_12960del , LRG_293:g.8246_12960del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.68-352_317-1637del
ENST00000528762.2:c.68-352_317-1637del
ENST00000530893.7:c.-302-352_-53-1637del
ENST00000665585.2:c.68-352_317-1637del
ENST00000666593.2:c.68-352_317-1637del
ENST00000700202.2:c.68-352_317-1637del
ENST00000700200.1:n.191+2198_192-1641del
ENST00000700201.1:c.68-352_317-1219del
ENST00000380152.8:c.68-352_317-1637del
ENST00000544455.6:c.68-352_317-1637del
ENST00000614259.2:c.68-352_317-1637del
ENST00000680887.1:c.68-352_317-1637del
ENST00000380152.7:c.68-352_317-1637del
ENST00000530893.6:n.266-352_515-1637del
ENST00000544455.5:c.68-352_317-1637del
ENST00000614259.1:n.68-352_317-1637del
NM_000059.3:c.68-352_317-1637del , LRG_293t1:c.68-352_317-1637del
XM_011535203.1:c.68-352_317-1637del
XM_011535204.1:c.68-352_317-1637del
XM_011535205.1:c.68-352_317-1637del
NM_000059.4:c.68-352_317-1637del