Canonical Allele Identifier: CA658823603

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 545890
• ClinVar RCV Id: RCV000657490
• dbSNP Id: rs1555289923
• MyVariant Identifiers: chr13:g.32972361del (hg19) ; chr13:g.32398224del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398224del , CM000675.2:g.32398224del	GRCh38
NC_000013.10:g.32972361del , CM000675.1:g.32972361del	GRCh37
NC_000013.9:g.31870361del	NCBI36
NG_012772.3:g.87745del , LRG_293:g.87745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*234del	ENSP00000434898.2:n.*234del
ENST00000528762.2:c.*1078del	ENSP00000433168.2:n.*1078del
ENST00000530893.7:c.9342del	ENSP00000499438.2:p.Lys3115SerfsTer11
ENST00000665585.2:c.*1273del	ENSP00000499570.2:n.*1273del
ENST00000700202.2:c.9660del	ENSP00000514856.2:p.Lys3221SerfsTer11
ENST00000700202.1:c.2127del	ENSP00000514856.1:p.Lys710SerfsTer11
ENST00000700203.1:n.1838del
ENST00000380152.8:c.9711del MANE Select	ENSP00000369497.3:p.Lys3238SerfsTer11
ENST00000544455.6:c.9711del	ENSP00000439902.1:p.Lys3238SerfsTer11
ENST00000614259.2:c.9719del	ENSP00000506251.1:n.9719del
ENST00000665585.1:c.2589del
ENST00000680887.1:c.9711del	ENSP00000505508.1:p.Lys3238SerfsTer11
ENST00000380152.7:c.9711del	ENSP00000369497.3:p.Lys3238SerfsTer11
ENST00000470094.1:c.794del
ENST00000533776.1:n.299del
ENST00000544455.5:c.9711del	ENSP00000439902.1:p.Lys3238SerfsTer11
NM_000059.3:c.9711del , LRG_293t1:c.9711del	NP_000050.2:p.Lys3238SerfsTer11
XM_011535203.1:c.9711del	XP_011533505.1:p.Lys3238SerfsTer11
XM_011535204.1:c.9615del	XP_011533506.1:p.Lys3206SerfsTer11
NM_000059.4:c.9711del MANE Select	NP_000050.3:p.Lys3238SerfsTer11