Canonical Allele Identifier: CA10589026

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266825
• ClinVar RCV Id: RCV000257273
• dbSNP Id: rs886040543
• MyVariant Identifiers: chr13:g.32900281_32900282insT (hg19) ; chr13:g.32326144_32326145insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326144_32326145insT , CM000675.2:g.32326144_32326145insT	GRCh38
NC_000013.10:g.32900281_32900282insT , CM000675.1:g.32900281_32900282insT	GRCh37
NC_000013.9:g.31798281_31798282insT	NCBI36
NG_012772.3:g.15665_15666insT , LRG_293:g.15665_15666insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.469_470insT	ENSP00000434898.2:p.Lys157IlefsTer26
ENST00000528762.2:c.469_470insT	ENSP00000433168.2:p.Lys157IlefsTer26
ENST00000530893.7:c.100_101insT	ENSP00000499438.2:p.Lys34IlefsTer26
ENST00000665585.2:c.469_470insT	ENSP00000499570.2:p.Lys157IlefsTer26
ENST00000666593.2:c.469_470insT	ENSP00000499256.2:p.Lys157IlefsTer26
ENST00000700202.2:c.469_470insT	ENSP00000514856.2:p.Lys157IlefsTer26
ENST00000700200.1:n.340_341insT
ENST00000700201.1:c.*248_*249insT	ENSP00000514855.1:n.*248_*249insT
ENST00000380152.8:c.469_470insT MANE Select	ENSP00000369497.3:p.Lys157IlefsTer26
ENST00000544455.6:c.469_470insT	ENSP00000439902.1:p.Lys157IlefsTer26
ENST00000614259.2:c.469_470insT	ENSP00000506251.1:p.Lys157IlefsTer26
ENST00000680887.1:c.469_470insT	ENSP00000505508.1:p.Lys157IlefsTer26
ENST00000380152.7:c.469_470insT	ENSP00000369497.3:p.Lys157IlefsTer26
ENST00000530893.6:n.667_668insT
ENST00000544455.5:c.469_470insT	ENSP00000439902.1:p.Lys157IlefsTer26
ENST00000614259.1:n.469_470insT
NM_000059.3:c.469_470insT , LRG_293t1:c.469_470insT	NP_000050.2:p.Lys157IlefsTer26
XM_011535203.1:c.469_470insT	XP_011533505.1:p.Lys157IlefsTer26
XM_011535204.1:c.469_470insT	XP_011533506.1:p.Lys157IlefsTer26
XM_011535205.1:c.469_470insT	XP_011533507.1:p.Lys157IlefsTer26
NM_000059.4:c.469_470insT MANE Select	NP_000050.3:p.Lys157IlefsTer26