Canonical Allele Identifier: CA2580087448

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1768063
• ClinVar RCV Id: RCV002387085

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398262dup , CM000675.2:g.32398262dup	GRCh38
NC_000013.10:g.32972399dup , CM000675.1:g.32972399dup	GRCh37
NC_000013.9:g.31870399dup	NCBI36
NG_012772.3:g.87783dup , LRG_293:g.87783dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*272dup	ENSP00000434898.2:n.*272dup
ENST00000528762.2:c.*1116dup	ENSP00000433168.2:n.*1116dup
ENST00000530893.7:c.9380dup	ENSP00000499438.2:p.Ser3129ValfsTer3
ENST00000665585.2:c.*1311dup	ENSP00000499570.2:n.*1311dup
ENST00000700202.2:c.9698dup	ENSP00000514856.2:p.Ser3235ValfsTer3
ENST00000700202.1:c.2165dup	ENSP00000514856.1:p.Ser724ValfsTer3
ENST00000700203.1:n.1876dup
ENST00000380152.8:c.9749dup MANE Select	ENSP00000369497.3:p.Ser3252ValfsTer3
ENST00000544455.6:c.9749dup	ENSP00000439902.1:p.Ser3252ValfsTer3
ENST00000614259.2:c.9757dup	ENSP00000506251.1:n.9757dup
ENST00000680887.1:c.9749dup	ENSP00000505508.1:p.Ser3252ValfsTer3
ENST00000380152.7:c.9749dup	ENSP00000369497.3:p.Ser3252ValfsTer3
ENST00000470094.1:c.832dup
ENST00000533776.1:n.337dup
ENST00000544455.5:c.9749dup	ENSP00000439902.1:p.Ser3252ValfsTer3
NM_000059.3:c.9749dup , LRG_293t1:c.9749dup	NP_000050.2:p.Ser3252ValfsTer3
XM_011535203.1:c.9749dup	XP_011533505.1:p.Ser3252ValfsTer3
XM_011535204.1:c.9653dup	XP_011533506.1:p.Ser3220ValfsTer3
NM_000059.4:c.9749dup MANE Select	NP_000050.3:p.Ser3252ValfsTer3