Canonical Allele Identifier: CA021981

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51839
• ClinVar RCV Id: RCV001314138
• dbSNP Id: rs80359504
• gnomAD v2: 13-32913788-AATAAACTTG-A
• gnomAD v4: 13-32339651-AATAAACTTG-A
• MyVariant Identifiers: chr13:g.32913791_32913799del (hg19) ; chr13:g.32913789_32913797del (hg19) ; chr13:g.32339654_32339662del (hg38) ; chr13:g.32339652_32339660del (hg38)
• PubMed: PMID:12203997

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339654_32339662del , CM000675.2:g.32339654_32339662del	GRCh38
NC_000013.10:g.32913791_32913799del , CM000675.1:g.32913791_32913799del	GRCh37
NC_000013.9:g.31811791_31811799del	NCBI36
NG_012772.3:g.29175_29183del , LRG_293:g.29175_29183del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.5299_5307del	ENSP00000434898.2:p.Lys1767_Asp1769del
ENST00000528762.2:c.5299_5307del	ENSP00000433168.2:p.Lys1767_Asp1769del
ENST00000530893.7:c.4930_4938del	ENSP00000499438.2:p.Lys1644_Asp1646del
ENST00000665585.2:c.5299_5307del	ENSP00000499570.2:p.Lys1767_Asp1769del
ENST00000666593.2:c.5299_5307del	ENSP00000499256.2:p.Lys1767_Asp1769del
ENST00000700202.2:c.5299_5307del	ENSP00000514856.2:p.Lys1767_Asp1769del
ENST00000380152.8:c.5299_5307del MANE Select	ENSP00000369497.3:p.Lys1767_Asp1769del
ENST00000544455.6:c.5299_5307del	ENSP00000439902.1:p.Lys1767_Asp1769del
ENST00000614259.2:c.5299_5307del	ENSP00000506251.1:p.Lys1767_Asp1769del
ENST00000680887.1:c.5299_5307del	ENSP00000505508.1:p.Lys1767_Asp1769del
ENST00000380152.7:c.5299_5307del	ENSP00000369497.3:p.Lys1767_Asp1769del
ENST00000544455.5:c.5299_5307del	ENSP00000439902.1:p.Lys1767_Asp1769del
ENST00000614259.1:n.5299_5307del
NM_000059.3:c.5299_5307del , LRG_293t1:c.5299_5307del	NP_000050.2:p.Lys1767_Asp1769del
XM_011535203.1:c.5299_5307del	XP_011533505.1:p.Lys1767_Asp1769del
XM_011535204.1:c.5299_5307del	XP_011533506.1:p.Lys1767_Asp1769del
XM_011535205.1:c.5299_5307del	XP_011533507.1:p.Lys1767_Asp1769del
NM_000059.4:c.5299_5307del MANE Select	NP_000050.3:p.Lys1767_Asp1769del