Canonical Allele Identifier: CA658823608

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 548332
• ClinVar RCV Id: RCV000661425
• dbSNP Id: rs1555280427
• MyVariant Identifiers: chr13:g.32893421_32893422insCCAT (hg19) ; chr13:g.32319284_32319285insCCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319284_32319285insCCAT , CM000675.2:g.32319284_32319285insCCAT	GRCh38
NC_000013.10:g.32893421_32893422insCCAT , CM000675.1:g.32893421_32893422insCCAT	GRCh37
NC_000013.9:g.31791421_31791422insCCAT	NCBI36
NG_012772.3:g.8805_8806insCCAT , LRG_293:g.8805_8806insCCAT
NG_017006.2:g.1079_1080insATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.275_276insCCAT	ENSP00000434898.2:p.Gln92HisfsTer10
ENST00000528762.2:c.275_276insCCAT	ENSP00000433168.2:p.Gln92HisfsTer10
ENST00000530893.7:c.-95_-94insCCAT	ENSP00000499438.2:n.-95_-94insCCAT
ENST00000665585.2:c.275_276insCCAT	ENSP00000499570.2:p.Gln92HisfsTer10
ENST00000666593.2:c.275_276insCCAT	ENSP00000499256.2:p.Gln92HisfsTer10
ENST00000700202.2:c.275_276insCCAT	ENSP00000514856.2:p.Gln92HisfsTer10
ENST00000700200.1:n.191+2757_191+2758insCCAT
ENST00000700201.1:c.275_276insCCAT	ENSP00000514855.1:p.Gln92HisfsTer10
ENST00000380152.8:c.275_276insCCAT MANE Select	ENSP00000369497.3:p.Gln92HisfsTer10
ENST00000544455.6:c.275_276insCCAT	ENSP00000439902.1:p.Gln92HisfsTer10
ENST00000614259.2:c.275_276insCCAT	ENSP00000506251.1:p.Gln92HisfsTer10
ENST00000680887.1:c.275_276insCCAT	ENSP00000505508.1:p.Gln92HisfsTer10
ENST00000380152.7:c.275_276insCCAT	ENSP00000369497.3:p.Gln92HisfsTer10
ENST00000530893.6:n.473_474insCCAT
ENST00000544455.5:c.275_276insCCAT	ENSP00000439902.1:p.Gln92HisfsTer10
ENST00000614259.1:n.275_276insCCAT
NM_000059.3:c.275_276insCCAT , LRG_293t1:c.275_276insCCAT	NP_000050.2:p.Gln92HisfsTer10
XM_011535203.1:c.275_276insCCAT	XP_011533505.1:p.Gln92HisfsTer10
XM_011535204.1:c.275_276insCCAT	XP_011533506.1:p.Gln92HisfsTer10
XM_011535205.1:c.275_276insCCAT	XP_011533507.1:p.Gln92HisfsTer10
NM_000059.4:c.275_276insCCAT MANE Select	NP_000050.3:p.Gln92HisfsTer10