Canonical Allele Identifier: CA10589535

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267126
• ClinVar RCV Id: RCV000257353
• dbSNP Id: rs886040808
• MyVariant Identifiers: chr13:g.32953919_32953920insAGAT (hg19) ; chr13:g.32379782_32379783insAGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379782_32379783insAGAT , CM000675.2:g.32379782_32379783insAGAT	GRCh38
NC_000013.10:g.32953919_32953920insAGAT , CM000675.1:g.32953919_32953920insAGAT	GRCh37
NC_000013.9:g.31851919_31851920insAGAT	NCBI36
NG_012772.3:g.69303_69304insAGAT , LRG_293:g.69303_69304insAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8986_8987insAGAT	ENSP00000434898.2:p.Leu2996Ter
ENST00000528762.2:c.*353_*354insAGAT	ENSP00000433168.2:n.*353_*354insAGAT
ENST00000530893.7:c.8617_8618insAGAT	ENSP00000499438.2:p.Leu2873Ter
ENST00000665585.2:c.*548_*549insAGAT	ENSP00000499570.2:n.*548_*549insAGAT
ENST00000666593.2:c.8986_8987insAGAT	ENSP00000499256.2:p.Leu2996Ter
ENST00000700202.2:c.8954-19_8954-18insAGAT	ENSP00000514856.2:n.8954-19_8954-18insAGAT
ENST00000700202.1:c.1421-19_1421-18insAGAT	ENSP00000514856.1:n.1421-19_1421-18insAGAT
ENST00000700203.1:n.1113_1114insAGAT
ENST00000380152.8:c.8986_8987insAGAT MANE Select	ENSP00000369497.3:p.Leu2996Ter
ENST00000544455.6:c.8986_8987insAGAT	ENSP00000439902.1:p.Leu2996Ter
ENST00000614259.2:c.8994_8995insAGAT	ENSP00000506251.1:n.8994_8995insAGAT
ENST00000665585.1:c.1864_1865insAGAT
ENST00000680887.1:c.8986_8987insAGAT	ENSP00000505508.1:p.Leu2996Ter
ENST00000380152.7:c.8986_8987insAGAT	ENSP00000369497.3:p.Leu2996Ter
ENST00000544455.5:c.8986_8987insAGAT	ENSP00000439902.1:p.Leu2996Ter
NM_000059.3:c.8986_8987insAGAT , LRG_293t1:c.8986_8987insAGAT	NP_000050.2:p.Leu2996Ter
XM_011535203.1:c.8986_8987insAGAT	XP_011533505.1:p.Leu2996Ter
XM_011535204.1:c.8890_8891insAGAT	XP_011533506.1:p.Leu2964Ter
XM_011535205.1:c.*24_*25insAGAT	XP_011533507.1:n.*24_*25insAGAT
NM_000059.4:c.8986_8987insAGAT MANE Select	NP_000050.3:p.Leu2996Ter