Canonical Allele Identifier: CA021779

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51826
• ClinVar RCV Id: RCV000113408 ; RCV000757935 ; RCV001023764
• dbSNP Id: rs276174855
• gnomAD v4: 13-32339575-AAGTAAC-A
• MyVariant Identifiers: chr13:g.32913716_32913721del (hg19) ; chr13:g.32339579_32339584del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339580_32339585del , CM000675.2:g.32339580_32339585del	GRCh38
NC_000013.10:g.32913717_32913722del , CM000675.1:g.32913717_32913722del	GRCh37
NC_000013.9:g.31811717_31811722del	NCBI36
NG_012772.3:g.29101_29106del , LRG_293:g.29101_29106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5225_5230del	ENSP00000434898.2:p.Asn1742_Ser1743del
ENST00000528762.2:c.5225_5230del	ENSP00000433168.2:p.Asn1742_Ser1743del
ENST00000530893.7:c.4856_4861del	ENSP00000499438.2:p.Asn1619_Ser1620del
ENST00000665585.2:c.5225_5230del	ENSP00000499570.2:p.Asn1742_Ser1743del
ENST00000666593.2:c.5225_5230del	ENSP00000499256.2:p.Asn1742_Ser1743del
ENST00000700202.2:c.5225_5230del	ENSP00000514856.2:p.Asn1742_Ser1743del
ENST00000380152.8:c.5225_5230del MANE Select	ENSP00000369497.3:p.Asn1742_Ser1743del
ENST00000544455.6:c.5225_5230del	ENSP00000439902.1:p.Asn1742_Ser1743del
ENST00000614259.2:c.5225_5230del	ENSP00000506251.1:p.Asn1742_Ser1743del
ENST00000680887.1:c.5225_5230del	ENSP00000505508.1:p.Asn1742_Ser1743del
ENST00000380152.7:c.5225_5230del	ENSP00000369497.3:p.Asn1742_Ser1743del
ENST00000544455.5:c.5225_5230del	ENSP00000439902.1:p.Asn1742_Ser1743del
ENST00000614259.1:n.5225_5230del
NM_000059.3:c.5225_5230del , LRG_293t1:c.5225_5230del	NP_000050.2:p.Asn1742_Ser1743del
XM_011535203.1:c.5225_5230del	XP_011533505.1:p.Asn1742_Ser1743del
XM_011535204.1:c.5225_5230del	XP_011533506.1:p.Asn1742_Ser1743del
XM_011535205.1:c.5225_5230del	XP_011533507.1:p.Asn1742_Ser1743del
NM_000059.4:c.5225_5230del MANE Select	NP_000050.3:p.Asn1742_Ser1743del