Canonical Allele Identifier: CA280073

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 208421
• ClinVar RCV Id: RCV000190457 ; RCV000241158
• dbSNP Id: rs797044987
• MyVariant Identifiers: chr13:g.32914087_32914088delinsC (hg19) ; chr13:g.32339950_32339951delinsC (hg38)
• PubMed: PMID:3583621

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339950_32339951delinsC , CM000675.2:g.32339950_32339951delinsC	GRCh38
NC_000013.10:g.32914087_32914088delinsC , CM000675.1:g.32914087_32914088delinsC	GRCh37
NC_000013.9:g.31812087_31812088delinsC	NCBI36
NG_012772.3:g.29471_29472delinsC , LRG_293:g.29471_29472delinsC

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.5595_5596delinsC	ENSP00000434898.2:p.Phe1866LeufsTer8
ENST00000528762.2:c.5595_5596delinsC	ENSP00000433168.2:p.Phe1866LeufsTer8
ENST00000530893.7:c.5226_5227delinsC	ENSP00000499438.2:p.Phe1743LeufsTer8
ENST00000665585.2:c.5595_5596delinsC	ENSP00000499570.2:p.Phe1866LeufsTer8
ENST00000666593.2:c.5595_5596delinsC	ENSP00000499256.2:p.Phe1866LeufsTer8
ENST00000700202.2:c.5595_5596delinsC	ENSP00000514856.2:p.Phe1866LeufsTer8
ENST00000380152.8:c.5595_5596delinsC MANE Select	ENSP00000369497.3:p.Phe1866LeufsTer8
ENST00000544455.6:c.5595_5596delinsC	ENSP00000439902.1:p.Phe1866LeufsTer8
ENST00000614259.2:c.5595_5596delinsC	ENSP00000506251.1:p.Phe1866LeufsTer8
ENST00000680887.1:c.5595_5596delinsC	ENSP00000505508.1:p.Phe1866LeufsTer8
ENST00000380152.7:c.5595_5596delinsC	ENSP00000369497.3:p.Phe1866LeufsTer8
ENST00000544455.5:c.5595_5596delinsC	ENSP00000439902.1:p.Phe1866LeufsTer8
ENST00000614259.1:n.5595_5596delinsC
NM_000059.3:c.5595_5596delinsC , LRG_293t1:c.5595_5596delinsC	NP_000050.2:p.Phe1866LeufsTer8
XM_011535203.1:c.5595_5596delinsC	XP_011533505.1:p.Phe1866LeufsTer8
XM_011535204.1:c.5595_5596delinsC	XP_011533506.1:p.Phe1866LeufsTer8
XM_011535205.1:c.5595_5596delinsC	XP_011533507.1:p.Phe1866LeufsTer8
NM_000059.4:c.5595_5596delinsC MANE Select	NP_000050.3:p.Phe1866LeufsTer8