Canonical Allele Identifier: CA025914

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52721
• ClinVar RCV Id: RCV000045681 ; RCV000241303 ; RCV000509596 ; RCV001283945
• dbSNP Id: rs397508027
• MyVariant Identifiers: chr13:g.32953921_32953923delinsTT (hg19) ; chr13:g.32379784_32379786delinsTT (hg38)
• PubMed: PMID:19616529

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379784_32379786delinsTT , CM000675.2:g.32379784_32379786delinsTT	GRCh38
NC_000013.10:g.32953921_32953923delinsTT , CM000675.1:g.32953921_32953923delinsTT	GRCh37
NC_000013.9:g.31851921_31851923delinsTT	NCBI36
NG_012772.3:g.69305_69307delinsTT , LRG_293:g.69305_69307delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8988_8990delinsTT	ENSP00000434898.2:p.Leu2996PhefsTer5
ENST00000528762.2:c.*355_*357delinsTT	ENSP00000433168.2:n.*355_*357delinsTT
ENST00000530893.7:c.8619_8621delinsTT	ENSP00000499438.2:p.Leu2873PhefsTer5
ENST00000665585.2:c.*550_*552delinsTT	ENSP00000499570.2:n.*550_*552delinsTT
ENST00000666593.2:c.8988_8990delinsTT	ENSP00000499256.2:p.Leu2996PhefsTer5
ENST00000700202.2:c.8954-17_8954-15delinsTT	ENSP00000514856.2:n.8954-17_8954-15delinsTT
ENST00000700202.1:c.1421-17_1421-15delinsTT	ENSP00000514856.1:n.1421-17_1421-15delinsTT
ENST00000700203.1:n.1115_1117delinsTT
ENST00000380152.8:c.8988_8990delinsTT MANE Select	ENSP00000369497.3:p.Leu2996PhefsTer5
ENST00000544455.6:c.8988_8990delinsTT	ENSP00000439902.1:p.Leu2996PhefsTer5
ENST00000614259.2:c.8996_8998delinsTT	ENSP00000506251.1:n.8996_8998delinsTT
ENST00000665585.1:c.1866_1868delinsTT
ENST00000680887.1:c.8988_8990delinsTT	ENSP00000505508.1:p.Leu2996PhefsTer5
ENST00000380152.7:c.8988_8990delinsTT	ENSP00000369497.3:p.Leu2996PhefsTer5
ENST00000544455.5:c.8988_8990delinsTT	ENSP00000439902.1:p.Leu2996PhefsTer5
NM_000059.3:c.8988_8990delinsTT , LRG_293t1:c.8988_8990delinsTT	NP_000050.2:p.Leu2996PhefsTer5
XM_011535203.1:c.8988_8990delinsTT	XP_011533505.1:p.Leu2996PhefsTer5
XM_011535204.1:c.8892_8894delinsTT	XP_011533506.1:p.Leu2964PhefsTer5
XM_011535205.1:c.*26_*28delinsTT	XP_011533507.1:n.*26_*28delinsTT
NM_000059.4:c.8988_8990delinsTT MANE Select	NP_000050.3:p.Leu2996PhefsTer5