Canonical Allele Identifier: CA915948494

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 659380
• ClinVar RCV Id: RCV000816376
• dbSNP Id: rs1593905747

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339902_32339903del , CM000675.2:g.32339902_32339903del	GRCh38
NC_000013.10:g.32914039_32914040del , CM000675.1:g.32914039_32914040del	GRCh37
NC_000013.9:g.31812039_31812040del	NCBI36
NG_012772.3:g.29423_29424del , LRG_293:g.29423_29424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5547_5548del	ENSP00000434898.2:p.Lys1850AsnfsTer7
ENST00000528762.2:c.5547_5548del	ENSP00000433168.2:p.Lys1850AsnfsTer7
ENST00000530893.7:c.5178_5179del	ENSP00000499438.2:p.Lys1727AsnfsTer7
ENST00000665585.2:c.5547_5548del	ENSP00000499570.2:p.Lys1850AsnfsTer7
ENST00000666593.2:c.5547_5548del	ENSP00000499256.2:p.Lys1850AsnfsTer7
ENST00000700202.2:c.5547_5548del	ENSP00000514856.2:p.Lys1850AsnfsTer7
ENST00000380152.8:c.5547_5548del MANE Select	ENSP00000369497.3:p.Lys1850AsnfsTer7
ENST00000544455.6:c.5547_5548del	ENSP00000439902.1:p.Lys1850AsnfsTer7
ENST00000614259.2:c.5547_5548del	ENSP00000506251.1:p.Lys1850AsnfsTer7
ENST00000680887.1:c.5547_5548del	ENSP00000505508.1:p.Lys1850AsnfsTer7
ENST00000380152.7:c.5547_5548del	ENSP00000369497.3:p.Lys1850AsnfsTer7
ENST00000544455.5:c.5547_5548del	ENSP00000439902.1:p.Lys1850AsnfsTer7
ENST00000614259.1:n.5547_5548del
NM_000059.3:c.5547_5548del , LRG_293t1:c.5547_5548del	NP_000050.2:p.Lys1850AsnfsTer7
XM_011535203.1:c.5547_5548del	XP_011533505.1:p.Lys1850AsnfsTer7
XM_011535204.1:c.5547_5548del	XP_011533506.1:p.Lys1850AsnfsTer7
XM_011535205.1:c.5547_5548del	XP_011533507.1:p.Lys1850AsnfsTer7
NM_000059.4:c.5547_5548del MANE Select	NP_000050.3:p.Lys1850AsnfsTer7