Canonical Allele Identifier: CA10589252

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266803
• ClinVar RCV Id: RCV000257045 ; RCV001269228
• dbSNP Id: rs886040522
• gnomAD v4: 13-32338658-AAT-A
• MyVariant Identifiers: chr13:g.32912798_32912799del (hg19) ; chr13:g.32338661_32338662del (hg38)
• PubMed: PMID:25371446

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338661_32338662del , CM000675.2:g.32338661_32338662del	GRCh38
NC_000013.10:g.32912798_32912799del , CM000675.1:g.32912798_32912799del	GRCh37
NC_000013.9:g.31810798_31810799del	NCBI36
NG_012772.3:g.28182_28183del , LRG_293:g.28182_28183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4306_4307del	ENSP00000434898.2:p.Ile1436Ter
ENST00000528762.2:c.4306_4307del	ENSP00000433168.2:p.Ile1436Ter
ENST00000530893.7:c.3937_3938del	ENSP00000499438.2:p.Ile1313Ter
ENST00000665585.2:c.4306_4307del	ENSP00000499570.2:p.Ile1436Ter
ENST00000666593.2:c.4306_4307del	ENSP00000499256.2:p.Ile1436Ter
ENST00000700202.2:c.4306_4307del	ENSP00000514856.2:p.Ile1436Ter
ENST00000380152.8:c.4306_4307del MANE Select	ENSP00000369497.3:p.Ile1436Ter
ENST00000544455.6:c.4306_4307del	ENSP00000439902.1:p.Ile1436Ter
ENST00000614259.2:c.4306_4307del	ENSP00000506251.1:p.Ile1436Ter
ENST00000680887.1:c.4306_4307del	ENSP00000505508.1:p.Ile1436Ter
ENST00000380152.7:c.4306_4307del	ENSP00000369497.3:p.Ile1436Ter
ENST00000544455.5:c.4306_4307del	ENSP00000439902.1:p.Ile1436Ter
ENST00000614259.1:n.4306_4307del
NM_000059.3:c.4306_4307del , LRG_293t1:c.4306_4307del	NP_000050.2:p.Ile1436Ter
XM_011535203.1:c.4306_4307del	XP_011533505.1:p.Ile1436Ter
XM_011535204.1:c.4306_4307del	XP_011533506.1:p.Ile1436Ter
XM_011535205.1:c.4306_4307del	XP_011533507.1:p.Ile1436Ter
NM_000059.4:c.4306_4307del MANE Select	NP_000050.3:p.Ile1436Ter