Canonical Allele Identifier: CA913190917

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 618546
• ClinVar RCV Id: RCV000757041 ; RCV001420792 ; RCV001018485 ; RCV003472276
• dbSNP Id: rs1593936840
• gnomAD v4: 13-32379459-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379462_32379463del , CM000675.2:g.32379462_32379463del	GRCh38
NC_000013.10:g.32953599_32953600del , CM000675.1:g.32953599_32953600del	GRCh37
NC_000013.9:g.31851599_31851600del	NCBI36
NG_012772.3:g.68983_68984del , LRG_293:g.68983_68984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8900_8901del	ENSP00000434898.2:p.Thr2967AsnfsTer?
ENST00000528762.2:c.*267_*268del	ENSP00000433168.2:n.*267_*268del
ENST00000530893.7:c.8531_8532del	ENSP00000499438.2:p.Thr2844AsnfsTer?
ENST00000665585.2:c.*462_*463del	ENSP00000499570.2:n.*462_*463del
ENST00000666593.2:c.8900_8901del	ENSP00000499256.2:p.Thr2967AsnfsTer?
ENST00000700202.2:c.8900_8901del	ENSP00000514856.2:p.Thr2967AsnfsTer?
ENST00000700202.1:c.1367_1368del	ENSP00000514856.1:p.Thr456AsnfsTer?
ENST00000700203.1:n.1027_1028del
ENST00000380152.8:c.8900_8901del MANE Select	ENSP00000369497.3:p.Thr2967AsnfsTer?
ENST00000544455.6:c.8900_8901del	ENSP00000439902.1:p.Thr2967AsnfsTer?
ENST00000614259.2:c.8908_8909del	ENSP00000506251.1:n.8908_8909del
ENST00000665585.1:c.1778_1779del
ENST00000680887.1:c.8900_8901del	ENSP00000505508.1:p.Thr2967AsnfsTer?
ENST00000380152.7:c.8900_8901del	ENSP00000369497.3:p.Thr2967AsnfsTer?
ENST00000528762.1:c.462_463del	ENSP00000433168.1:n.462_463del
ENST00000544455.5:c.8900_8901del	ENSP00000439902.1:p.Thr2967AsnfsTer?
NM_000059.3:c.8900_8901del , LRG_293t1:c.8900_8901del	NP_000050.2:p.Thr2967AsnfsTer?
XM_011535203.1:c.8900_8901del	XP_011533505.1:p.Thr2967AsnfsTer?
XM_011535204.1:c.8804_8805del	XP_011533506.1:p.Thr2935AsnfsTer?
XM_011535205.1:c.8755-288_8755-287del	XP_011533507.1:n.8755-288_8755-287del
NM_000059.4:c.8900_8901del MANE Select	NP_000050.3:p.Thr2967AsnfsTer?