Allele Registry

Canonical Allele Identifier: CA023497

Gene: BRCA2 HGNC NCBI

Linked Data - Expert Curation

BRCA Exchange:

Summary View CA023497

Pop AF ACMG Code (provisional) No code met (non-SNV)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr13:g.32316465del

GRCh37 chr13:g.32890602del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000256687

ClinVar Variation:

51985

dbSNP:

397507820

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316465del , CM000675.2:g.32316465del	GRCh38
NC_000013.10:g.32890602del , CM000675.1:g.32890602del	GRCh37
NC_000013.9:g.31788602del	NCBI36
NG_012772.3:g.5986del , LRG_293:g.5986del
NG_017006.1:g.491del
NG_017006.2:g.3900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5del	ENSP00000434898.2:p.Pro2LeufsTer23
ENST00000528762.2:c.5del	ENSP00000433168.2:p.Pro2LeufsTer23
ENST00000530893.7:c.-361del	ENSP00000499438.2:n.-361del
ENST00000665585.2:c.5del	ENSP00000499570.2:p.Pro2LeufsTer23
ENST00000666593.2:c.5del	ENSP00000499256.2:p.Pro2LeufsTer23
ENST00000700202.2:c.5del	ENSP00000514856.2:p.Pro2LeufsTer23
ENST00000700199.1:n.129del
ENST00000700200.1:n.129del
ENST00000700201.1:c.5del	ENSP00000514855.1:p.Pro2LeufsTer23
ENST00000380152.8:c.5del MANE Select	ENSP00000369497.3:p.Pro2LeufsTer23
ENST00000544455.6:c.5del	ENSP00000439902.1:p.Pro2LeufsTer23
ENST00000614259.2:c.5del	ENSP00000506251.1:p.Pro2LeufsTer23
ENST00000680887.1:c.5del	ENSP00000505508.1:p.Pro2LeufsTer23
ENST00000380152.7:c.5del	ENSP00000369497.3:p.Pro2LeufsTer23
ENST00000530893.6:n.207del
ENST00000544455.5:c.5del	ENSP00000439902.1:p.Pro2LeufsTer23
ENST00000614259.1:n.5del
NM_000059.3:c.5del , LRG_293t1:c.5del	NP_000050.2:p.Pro2LeufsTer23
XM_011535203.1:c.5del	XP_011533505.1:p.Pro2LeufsTer23
XM_011535204.1:c.5del	XP_011533506.1:p.Pro2LeufsTer23
XM_011535205.1:c.5del	XP_011533507.1:p.Pro2LeufsTer23
NM_000059.4:c.5del MANE Select	NP_000050.3:p.Pro2LeufsTer23

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