Canonical Allele Identifier: CA025841

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52688
• ClinVar RCV Id: RCV000257304
• dbSNP Id: rs397508013
• MyVariant Identifiers: chr13:g.32953526_32953527insG (hg19) ; chr13:g.32379389_32379390insG (hg38)
• PubMed: PMID:22798144

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379389_32379390insG , CM000675.2:g.32379389_32379390insG	GRCh38
NC_000013.10:g.32953526_32953527insG , CM000675.1:g.32953526_32953527insG	GRCh37
NC_000013.9:g.31851526_31851527insG	NCBI36
NG_012772.3:g.68910_68911insG , LRG_293:g.68910_68911insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8827_8828insG	ENSP00000434898.2:p.Gln2943ArgfsTer7
ENST00000528762.2:c.*194_*195insG	ENSP00000433168.2:n.*194_*195insG
ENST00000530893.7:c.8458_8459insG	ENSP00000499438.2:p.Gln2820ArgfsTer7
ENST00000665585.2:c.*389_*390insG	ENSP00000499570.2:n.*389_*390insG
ENST00000666593.2:c.8827_8828insG	ENSP00000499256.2:p.Gln2943ArgfsTer7
ENST00000700202.2:c.8827_8828insG	ENSP00000514856.2:p.Gln2943ArgfsTer7
ENST00000700202.1:c.1294_1295insG	ENSP00000514856.1:p.Gln432ArgfsTer7
ENST00000700203.1:n.954_955insG
ENST00000380152.8:c.8827_8828insG MANE Select	ENSP00000369497.3:p.Gln2943ArgfsTer7
ENST00000544455.6:c.8827_8828insG	ENSP00000439902.1:p.Gln2943ArgfsTer7
ENST00000614259.2:c.8835_8836insG	ENSP00000506251.1:n.8835_8836insG
ENST00000665585.1:c.1705_1706insG
ENST00000680887.1:c.8827_8828insG	ENSP00000505508.1:p.Gln2943ArgfsTer7
ENST00000380152.7:c.8827_8828insG	ENSP00000369497.3:p.Gln2943ArgfsTer7
ENST00000528762.1:c.389_390insG	ENSP00000433168.1:n.389_390insG
ENST00000544455.5:c.8827_8828insG	ENSP00000439902.1:p.Gln2943ArgfsTer7
NM_000059.3:c.8827_8828insG , LRG_293t1:c.8827_8828insG	NP_000050.2:p.Gln2943ArgfsTer7
XM_011535203.1:c.8827_8828insG	XP_011533505.1:p.Gln2943ArgfsTer7
XM_011535204.1:c.8731_8732insG	XP_011533506.1:p.Gln2911ArgfsTer7
XM_011535205.1:c.8755-361_8755-360insG	XP_011533507.1:n.8755-361_8755-360insG
NM_000059.4:c.8827_8828insG MANE Select	NP_000050.3:p.Gln2943ArgfsTer7