Canonical Allele Identifier: CA10589525

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267116
• ClinVar RCV Id: RCV000257186
• dbSNP Id: rs886040800
• MyVariant Identifiers: chr13:g.32953618dupT (hg19) ; chr13:g.32379481dupT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379481dup , CM000675.2:g.32379481dup	GRCh38
NC_000013.10:g.32953618dup , CM000675.1:g.32953618dup	GRCh37
NC_000013.9:g.31851618dup	NCBI36
NG_012772.3:g.69002dup , LRG_293:g.69002dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8919dup	ENSP00000434898.2:p.Ile2974TyrfsTer?
ENST00000528762.2:c.*286dup	ENSP00000433168.2:n.*286dup
ENST00000530893.7:c.8550dup	ENSP00000499438.2:p.Ile2851TyrfsTer?
ENST00000665585.2:c.*481dup	ENSP00000499570.2:n.*481dup
ENST00000666593.2:c.8919dup	ENSP00000499256.2:p.Ile2974TyrfsTer?
ENST00000700202.2:c.8919dup	ENSP00000514856.2:p.Ile2974TyrfsTer27
ENST00000700202.1:c.1386dup	ENSP00000514856.1:p.Ile463TyrfsTer27
ENST00000700203.1:n.1046dup
ENST00000380152.8:c.8919dup MANE Select	ENSP00000369497.3:p.Ile2974TyrfsTer?
ENST00000544455.6:c.8919dup	ENSP00000439902.1:p.Ile2974TyrfsTer?
ENST00000614259.2:c.8927dup	ENSP00000506251.1:n.8927dup
ENST00000665585.1:c.1797dup
ENST00000680887.1:c.8919dup	ENSP00000505508.1:p.Ile2974TyrfsTer?
ENST00000380152.7:c.8919dup	ENSP00000369497.3:p.Ile2974TyrfsTer?
ENST00000528762.1:c.481dup	ENSP00000433168.1:n.481dup
ENST00000544455.5:c.8919dup	ENSP00000439902.1:p.Ile2974TyrfsTer?
NM_000059.3:c.8919dup , LRG_293t1:c.8919dup	NP_000050.2:p.Ile2974TyrfsTer?
XM_011535203.1:c.8919dup	XP_011533505.1:p.Ile2974TyrfsTer?
XM_011535204.1:c.8823dup	XP_011533506.1:p.Ile2942TyrfsTer?
XM_011535205.1:c.8755-269dup	XP_011533507.1:n.8755-269dup
NM_000059.4:c.8919dup MANE Select	NP_000050.3:p.Ile2974TyrfsTer?