Canonical Allele Identifier: CA2580614679

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2566041
• ClinVar RCV Id: RCV003293444

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356462_32356470del , CM000675.2:g.32356462_32356470del	GRCh38
NC_000013.10:g.32930599_32930607del , CM000675.1:g.32930599_32930607del	GRCh37
NC_000013.9:g.31828599_31828607del	NCBI36
NG_012772.3:g.45983_45991del , LRG_293:g.45983_45991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7470_7478del	ENSP00000434898.2:p.Ile2490_Asp2492del
ENST00000528762.2:c.7470_7478del	ENSP00000433168.2:p.Ile2490_Asp2492del
ENST00000530893.7:c.7101_7109del	ENSP00000499438.2:p.Ile2367_Asp2369del
ENST00000665585.2:c.7470_7478del	ENSP00000499570.2:p.Ile2490_Asp2492del
ENST00000666593.2:c.7470_7478del	ENSP00000499256.2:p.Ile2490_Asp2492del
ENST00000700202.2:c.7470_7478del	ENSP00000514856.2:p.Ile2490_Asp2492del
ENST00000380152.8:c.7470_7478del MANE Select	ENSP00000369497.3:p.Ile2490_Asp2492del
ENST00000544455.6:c.7470_7478del	ENSP00000439902.1:p.Ile2490_Asp2492del
ENST00000614259.2:c.7470_7478del	ENSP00000506251.1:p.Ile2490_Asp2492del
ENST00000665585.1:c.35_43del
ENST00000680887.1:c.7470_7478del	ENSP00000505508.1:p.Ile2490_Asp2492del
ENST00000380152.7:c.7470_7478del	ENSP00000369497.3:p.Ile2490_Asp2492del
ENST00000544455.5:c.7470_7478del	ENSP00000439902.1:p.Ile2490_Asp2492del
ENST00000614259.1:n.7470_7478del
NM_000059.3:c.7470_7478del , LRG_293t1:c.7470_7478del	NP_000050.2:p.Ile2490_Asp2492del
XM_011535203.1:c.7470_7478del	XP_011533505.1:p.Ile2490_Asp2492del
XM_011535204.1:c.7374_7382del	XP_011533506.1:p.Ile2458_Asp2460del
XM_011535205.1:c.7470_7478del	XP_011533507.1:p.Ile2490_Asp2492del
NM_000059.4:c.7470_7478del MANE Select	NP_000050.3:p.Ile2490_Asp2492del