Canonical Allele Identifier: CA658683851

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 495511
• ClinVar RCV Id: RCV000589246
• dbSNP Id: rs1555288386
• MyVariant Identifiers: chr13:g.32953567dup (hg19) ; chr13:g.32379430dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379430dup , CM000675.2:g.32379430dup	GRCh38
NC_000013.10:g.32953567dup , CM000675.1:g.32953567dup	GRCh37
NC_000013.9:g.31851567dup	NCBI36
NG_012772.3:g.68951dup , LRG_293:g.68951dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8868dup	ENSP00000434898.2:p.Gln2957ThrfsTer?
ENST00000528762.2:c.*235dup	ENSP00000433168.2:n.*235dup
ENST00000530893.7:c.8499dup	ENSP00000499438.2:p.Gln2834ThrfsTer?
ENST00000665585.2:c.*430dup	ENSP00000499570.2:n.*430dup
ENST00000666593.2:c.8868dup	ENSP00000499256.2:p.Gln2957ThrfsTer?
ENST00000700202.2:c.8868dup	ENSP00000514856.2:p.Gln2957ThrfsTer?
ENST00000700202.1:c.1335dup	ENSP00000514856.1:p.Gln446ThrfsTer?
ENST00000700203.1:n.995dup
ENST00000380152.8:c.8868dup MANE Select	ENSP00000369497.3:p.Gln2957ThrfsTer?
ENST00000544455.6:c.8868dup	ENSP00000439902.1:p.Gln2957ThrfsTer?
ENST00000614259.2:c.8876dup	ENSP00000506251.1:n.8876dup
ENST00000665585.1:c.1746dup
ENST00000680887.1:c.8868dup	ENSP00000505508.1:p.Gln2957ThrfsTer?
ENST00000380152.7:c.8868dup	ENSP00000369497.3:p.Gln2957ThrfsTer?
ENST00000528762.1:c.430dup	ENSP00000433168.1:n.430dup
ENST00000544455.5:c.8868dup	ENSP00000439902.1:p.Gln2957ThrfsTer?
NM_000059.3:c.8868dup , LRG_293t1:c.8868dup	NP_000050.2:p.Gln2957ThrfsTer?
XM_011535203.1:c.8868dup	XP_011533505.1:p.Gln2957ThrfsTer?
XM_011535204.1:c.8772dup	XP_011533506.1:p.Gln2925ThrfsTer?
XM_011535205.1:c.8755-320dup	XP_011533507.1:n.8755-320dup
NM_000059.4:c.8868dup MANE Select	NP_000050.3:p.Gln2957ThrfsTer?