Canonical Allele Identifier: CA2580614654

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2573294
• ClinVar RCV Id: RCV003316983

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333226_32333228delinsGG , CM000675.2:g.32333226_32333228delinsGG	GRCh38
NC_000013.10:g.32907363_32907365delinsGG , CM000675.1:g.32907363_32907365delinsGG	GRCh37
NC_000013.9:g.31805363_31805365delinsGG	NCBI36
NG_012772.3:g.22747_22749delinsGG , LRG_293:g.22747_22749delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1748_1750delinsGG	ENSP00000434898.2:p.Leu583TrpfsTer31
ENST00000528762.2:c.1748_1750delinsGG	ENSP00000433168.2:p.Leu583TrpfsTer31
ENST00000530893.7:c.1379_1381delinsGG	ENSP00000499438.2:p.Leu460TrpfsTer31
ENST00000665585.2:c.1748_1750delinsGG	ENSP00000499570.2:p.Leu583TrpfsTer31
ENST00000666593.2:c.1748_1750delinsGG	ENSP00000499256.2:p.Leu583TrpfsTer31
ENST00000700202.2:c.1748_1750delinsGG	ENSP00000514856.2:p.Leu583TrpfsTer31
ENST00000700201.1:c.*1527_*1529delinsGG	ENSP00000514855.1:n.*1527_*1529delinsGG
ENST00000380152.8:c.1748_1750delinsGG MANE Select	ENSP00000369497.3:p.Leu583TrpfsTer31
ENST00000544455.6:c.1748_1750delinsGG	ENSP00000439902.1:p.Leu583TrpfsTer31
ENST00000614259.2:c.1748_1750delinsGG	ENSP00000506251.1:p.Leu583TrpfsTer31
ENST00000680887.1:c.1748_1750delinsGG	ENSP00000505508.1:p.Leu583TrpfsTer31
ENST00000380152.7:c.1748_1750delinsGG	ENSP00000369497.3:p.Leu583TrpfsTer31
ENST00000530893.6:n.1946_1948delinsGG
ENST00000544455.5:c.1748_1750delinsGG	ENSP00000439902.1:p.Leu583TrpfsTer31
ENST00000614259.1:n.1748_1750delinsGG
NM_000059.3:c.1748_1750delinsGG , LRG_293t1:c.1748_1750delinsGG	NP_000050.2:p.Leu583TrpfsTer31
XM_011535203.1:c.1748_1750delinsGG	XP_011533505.1:p.Leu583TrpfsTer31
XM_011535204.1:c.1748_1750delinsGG	XP_011533506.1:p.Leu583TrpfsTer31
XM_011535205.1:c.1748_1750delinsGG	XP_011533507.1:p.Leu583TrpfsTer31
NM_000059.4:c.1748_1750delinsGG MANE Select	NP_000050.3:p.Leu583TrpfsTer31