Canonical Allele Identifier: CA011465

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51096
• ClinVar RCV Id: RCV000113163 ; RCV001852915
• dbSNP Id: rs80359275
• MyVariant Identifiers: chr13:g.32893274del (hg19) ; chr13:g.32319137del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319137del , CM000675.2:g.32319137del	GRCh38
NC_000013.10:g.32893274del , CM000675.1:g.32893274del	GRCh37
NC_000013.9:g.31791274del	NCBI36
NG_012772.3:g.8658del , LRG_293:g.8658del
NG_017006.2:g.1228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.128del	ENSP00000434898.2:p.Asn43IlefsTer?
ENST00000528762.2:c.128del	ENSP00000433168.2:p.Asn43IlefsTer?
ENST00000530893.7:c.-242del	ENSP00000499438.2:n.-242del
ENST00000665585.2:c.128del	ENSP00000499570.2:p.Asn43IlefsTer?
ENST00000666593.2:c.128del	ENSP00000499256.2:p.Asn43IlefsTer?
ENST00000700202.2:c.128del	ENSP00000514856.2:p.Asn43IlefsTer?
ENST00000700200.1:n.191+2610del
ENST00000700201.1:c.128del	ENSP00000514855.1:p.Asn43IlefsTer?
ENST00000380152.8:c.128del MANE Select	ENSP00000369497.3:p.Asn43IlefsTer?
ENST00000544455.6:c.128del	ENSP00000439902.1:p.Asn43IlefsTer?
ENST00000614259.2:c.128del	ENSP00000506251.1:p.Asn43IlefsTer?
ENST00000680887.1:c.128del	ENSP00000505508.1:p.Asn43IlefsTer?
ENST00000380152.7:c.128del	ENSP00000369497.3:p.Asn43IlefsTer?
ENST00000530893.6:n.326del
ENST00000544455.5:c.128del	ENSP00000439902.1:p.Asn43IlefsTer?
ENST00000614259.1:n.128del
NM_000059.3:c.128del , LRG_293t1:c.128del	NP_000050.2:p.Asn43IlefsTer?
XM_011535203.1:c.128del	XP_011533505.1:p.Asn43IlefsTer?
XM_011535204.1:c.128del	XP_011533506.1:p.Asn43IlefsTer?
XM_011535205.1:c.128del	XP_011533507.1:p.Asn43IlefsTer?
NM_000059.4:c.128del MANE Select	NP_000050.3:p.Asn43IlefsTer?