Canonical Allele Identifier: CA16042141
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371956
ClinVar RCV Id: RCV000409051
dbSNP Id: rs1057517595

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32339842_32339843del , CM000675.2:g.32339842_32339843del GRCh38
NC_000013.10:g.32913979_32913980del , CM000675.1:g.32913979_32913980del GRCh37
NC_000013.9:g.31811979_31811980del NCBI36
NG_012772.3:g.29363_29364del , LRG_293:g.29363_29364del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.5487_5488del ENSP00000434898.2:p.Leu1829PhefsTer4
ENST00000528762.2:c.5487_5488del ENSP00000433168.2:p.Leu1829PhefsTer4
ENST00000530893.7:c.5118_5119del ENSP00000499438.2:p.Leu1706PhefsTer4
ENST00000665585.2:c.5487_5488del ENSP00000499570.2:p.Leu1829PhefsTer4
ENST00000666593.2:c.5487_5488del ENSP00000499256.2:p.Leu1829PhefsTer4
ENST00000700202.2:c.5487_5488del ENSP00000514856.2:p.Leu1829PhefsTer4
ENST00000380152.8:c.5487_5488del MANE Select ENSP00000369497.3:p.Leu1829PhefsTer4
ENST00000544455.6:c.5487_5488del ENSP00000439902.1:p.Leu1829PhefsTer4
ENST00000614259.2:c.5487_5488del ENSP00000506251.1:p.Leu1829PhefsTer4
ENST00000680887.1:c.5487_5488del ENSP00000505508.1:p.Leu1829PhefsTer4
ENST00000380152.7:c.5487_5488del ENSP00000369497.3:p.Leu1829PhefsTer4
ENST00000544455.5:c.5487_5488del ENSP00000439902.1:p.Leu1829PhefsTer4
ENST00000614259.1:n.5487_5488del
NM_000059.3:c.5487_5488del , LRG_293t1:c.5487_5488del NP_000050.2:p.Leu1829PhefsTer4
XM_011535203.1:c.5487_5488del XP_011533505.1:p.Leu1829PhefsTer4
XM_011535204.1:c.5487_5488del XP_011533506.1:p.Leu1829PhefsTer4
XM_011535205.1:c.5487_5488del XP_011533507.1:p.Leu1829PhefsTer4
NM_000059.4:c.5487_5488del MANE Select NP_000050.3:p.Leu1829PhefsTer4