Canonical Allele Identifier: CA10584448

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 246151
• ClinVar RCV Id: RCV000235563 ; RCV000257060 ; RCV000457247 ; RCV000776493
• dbSNP Id: rs879254123
• gnomAD v2: 13-32913597-CAGAA-C
• gnomAD v4: 13-32339460-CAGAA-C
• MyVariant Identifiers: chr13:g.32913602_32913605del (hg19) ; chr13:g.32913598_32913601del (hg19) ; chr13:g.32339465_32339468del (hg38) ; chr13:g.32339461_32339464del (hg38)
• PubMed: PMID:26556299

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339465_32339468del , CM000675.2:g.32339465_32339468del	GRCh38
NC_000013.10:g.32913602_32913605del , CM000675.1:g.32913602_32913605del	GRCh37
NC_000013.9:g.31811602_31811605del	NCBI36
NG_012772.3:g.28986_28989del , LRG_293:g.28986_28989del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.5110_5113del	ENSP00000434898.2:p.Arg1704Ter
ENST00000528762.2:c.5110_5113del	ENSP00000433168.2:p.Arg1704Ter
ENST00000530893.7:c.4741_4744del	ENSP00000499438.2:p.Arg1581Ter
ENST00000665585.2:c.5110_5113del	ENSP00000499570.2:p.Arg1704Ter
ENST00000666593.2:c.5110_5113del	ENSP00000499256.2:p.Arg1704Ter
ENST00000700202.2:c.5110_5113del	ENSP00000514856.2:p.Arg1704Ter
ENST00000380152.8:c.5110_5113del MANE Select	ENSP00000369497.3:p.Arg1704Ter
ENST00000544455.6:c.5110_5113del	ENSP00000439902.1:p.Arg1704Ter
ENST00000614259.2:c.5110_5113del	ENSP00000506251.1:p.Arg1704Ter
ENST00000680887.1:c.5110_5113del	ENSP00000505508.1:p.Arg1704Ter
ENST00000380152.7:c.5110_5113del	ENSP00000369497.3:p.Arg1704Ter
ENST00000544455.5:c.5110_5113del	ENSP00000439902.1:p.Arg1704Ter
ENST00000614259.1:n.5110_5113del
NM_000059.3:c.5110_5113del , LRG_293t1:c.5110_5113del	NP_000050.2:p.Arg1704Ter
XM_011535203.1:c.5110_5113del	XP_011533505.1:p.Arg1704Ter
XM_011535204.1:c.5110_5113del	XP_011533506.1:p.Arg1704Ter
XM_011535205.1:c.5110_5113del	XP_011533507.1:p.Arg1704Ter
NM_000059.4:c.5110_5113del MANE Select	NP_000050.3:p.Arg1704Ter