Canonical Allele Identifier: CA658656335

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 482985
• ClinVar RCV Id: RCV000561486
• dbSNP Id: rs1555280423
• MyVariant Identifiers: chr13:g.32893416_32893419dup (hg19) ; chr13:g.32319279_32319282dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319279_32319282dup , CM000675.2:g.32319279_32319282dup	GRCh38
NC_000013.10:g.32893416_32893419dup , CM000675.1:g.32893416_32893419dup	GRCh37
NC_000013.9:g.31791416_31791419dup	NCBI36
NG_012772.3:g.8800_8803dup , LRG_293:g.8800_8803dup
NG_017006.2:g.1082_1085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.270_273dup	ENSP00000434898.2:p.Gln92ValfsTer10
ENST00000528762.2:c.270_273dup	ENSP00000433168.2:p.Gln92ValfsTer10
ENST00000530893.7:c.-100_-97dup	ENSP00000499438.2:n.-100_-97dup
ENST00000665585.2:c.270_273dup	ENSP00000499570.2:p.Gln92ValfsTer10
ENST00000666593.2:c.270_273dup	ENSP00000499256.2:p.Gln92ValfsTer10
ENST00000700202.2:c.270_273dup	ENSP00000514856.2:p.Gln92ValfsTer10
ENST00000700200.1:n.191+2752_191+2755dup
ENST00000700201.1:c.270_273dup	ENSP00000514855.1:p.Gln92ValfsTer10
ENST00000380152.8:c.270_273dup MANE Select	ENSP00000369497.3:p.Gln92ValfsTer10
ENST00000544455.6:c.270_273dup	ENSP00000439902.1:p.Gln92ValfsTer10
ENST00000614259.2:c.270_273dup	ENSP00000506251.1:p.Gln92ValfsTer10
ENST00000680887.1:c.270_273dup	ENSP00000505508.1:p.Gln92ValfsTer10
ENST00000380152.7:c.270_273dup	ENSP00000369497.3:p.Gln92ValfsTer10
ENST00000530893.6:n.468_471dup
ENST00000544455.5:c.270_273dup	ENSP00000439902.1:p.Gln92ValfsTer10
ENST00000614259.1:n.270_273dup
NM_000059.3:c.270_273dup , LRG_293t1:c.270_273dup	NP_000050.2:p.Gln92ValfsTer10
XM_011535203.1:c.270_273dup	XP_011533505.1:p.Gln92ValfsTer10
XM_011535204.1:c.270_273dup	XP_011533506.1:p.Gln92ValfsTer10
XM_011535205.1:c.270_273dup	XP_011533507.1:p.Gln92ValfsTer10
NM_000059.4:c.270_273dup MANE Select	NP_000050.3:p.Gln92ValfsTer10