Canonical Allele Identifier: CA891843898
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 579007
ClinVar RCV Id: RCV000702179
dbSNP Id: rs1566248961

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32370549_32370565del , CM000675.2:g.32370549_32370565del GRCh38
NC_000013.10:g.32944686_32944702del , CM000675.1:g.32944686_32944702del GRCh37
NC_000013.9:g.31842686_31842702del NCBI36
NG_012772.3:g.60070_60086del , LRG_293:g.60070_60086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8479_8487+8del
ENST00000528762.2:c.8479_8487+8del
ENST00000530893.7:c.8110_8118+8del
ENST00000665585.2:c.8479_8487+8del
ENST00000666593.2:c.8479_8487+8del
ENST00000700202.2:c.8479_8487+8del
ENST00000700202.1:c.946_954+8del
ENST00000380152.8:c.8479_8487+8del
ENST00000544455.6:c.8479_8487+8del
ENST00000614259.2:c.8487_8495+8del
ENST00000665585.1:c.1044_1052+8del
ENST00000680887.1:c.8479_8487+8del
ENST00000380152.7:c.8479_8487+8del
ENST00000544455.5:c.8479_8487+8del
NM_000059.3:c.8479_8487+8del , LRG_293t1:c.8479_8487+8del
XM_011535203.1:c.8479_8487+8del
XM_011535204.1:c.8383_8391+8del
XM_011535205.1:c.8479_8487+8del
NM_000059.4:c.8479_8487+8del