Canonical Allele Identifier: CA16043339
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373822
dbSNP Id: rs1057518635

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340369_32340372del , CM000675.2:g.32340369_32340372del GRCh38
NC_000013.10:g.32914506_32914509del , CM000675.1:g.32914506_32914509del GRCh37
NC_000013.9:g.31812506_31812509del NCBI36
NG_012772.3:g.29890_29893del , LRG_293:g.29890_29893del

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.6014_6017del , LRG_293t1:c.6014_6017del NP_000050.2:p.Asp2005ValfsTer?
XM_011535203.1:c.6014_6017del XP_011533505.1:p.Asp2005ValfsTer?
XM_011535204.1:c.6014_6017del XP_011533506.1:p.Asp2005ValfsTer?
XM_011535205.1:c.6014_6017del XP_011533507.1:p.Asp2005ValfsTer?
ENST00000380152.7:c.6014_6017del ENSP00000369497.3:p.Asp2005ValfsTer?
ENST00000544455.5:c.6014_6017del ENSP00000439902.1:p.Asp2005ValfsTer?
ENST00000614259.1:n.6014_6017del