Canonical Allele Identifier: CA10589150

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266694
• ClinVar RCV Id: RCV001387559 ; RCV003463725
• dbSNP Id: rs886038071
• MyVariant Identifiers: chr13:g.32910770_32910771del (hg19) ; chr13:g.32910768_32910769del (hg19) ; chr13:g.32336633_32336634del (hg38)
• PubMed: PMID:22009639

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336633_32336634del , CM000675.2:g.32336633_32336634del	GRCh38
NC_000013.10:g.32910770_32910771del , CM000675.1:g.32910770_32910771del	GRCh37
NC_000013.9:g.31808770_31808771del	NCBI36
NG_012772.3:g.26154_26155del , LRG_293:g.26154_26155del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.2278_2279del	ENSP00000434898.2:p.Leu760IlefsTer2
ENST00000528762.2:c.2278_2279del	ENSP00000433168.2:p.Leu760IlefsTer2
ENST00000530893.7:c.1909_1910del	ENSP00000499438.2:p.Leu637IlefsTer2
ENST00000665585.2:c.2278_2279del	ENSP00000499570.2:p.Leu760IlefsTer2
ENST00000666593.2:c.2278_2279del	ENSP00000499256.2:p.Leu760IlefsTer2
ENST00000700202.2:c.2278_2279del	ENSP00000514856.2:p.Leu760IlefsTer2
ENST00000380152.8:c.2278_2279del MANE Select	ENSP00000369497.3:p.Leu760IlefsTer2
ENST00000544455.6:c.2278_2279del	ENSP00000439902.1:p.Leu760IlefsTer2
ENST00000614259.2:c.2278_2279del	ENSP00000506251.1:p.Leu760IlefsTer2
ENST00000680887.1:c.2278_2279del	ENSP00000505508.1:p.Leu760IlefsTer2
ENST00000380152.7:c.2278_2279del	ENSP00000369497.3:p.Leu760IlefsTer2
ENST00000544455.5:c.2278_2279del	ENSP00000439902.1:p.Leu760IlefsTer2
ENST00000614259.1:n.2278_2279del
NM_000059.3:c.2278_2279del , LRG_293t1:c.2278_2279del	NP_000050.2:p.Leu760IlefsTer2
XM_011535203.1:c.2278_2279del	XP_011533505.1:p.Leu760IlefsTer2
XM_011535204.1:c.2278_2279del	XP_011533506.1:p.Leu760IlefsTer2
XM_011535205.1:c.2278_2279del	XP_011533507.1:p.Leu760IlefsTer2
NM_000059.4:c.2278_2279del MANE Select	NP_000050.3:p.Leu760IlefsTer2