Canonical Allele Identifier: CA658683852

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491326
• ClinVar RCV Id: RCV000584149 ; RCV000680273 ; RCV001860076
• dbSNP Id: rs1555286294
• MyVariant Identifiers: chr13:g.32930708del (hg19) ; chr13:g.32356571del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356571del , CM000675.2:g.32356571del	GRCh38
NC_000013.10:g.32930708del , CM000675.1:g.32930708del	GRCh37
NC_000013.9:g.31828708del	NCBI36
NG_012772.3:g.46092del , LRG_293:g.46092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7579del	ENSP00000434898.2:p.Val2527Ter
ENST00000528762.2:c.7579del	ENSP00000433168.2:p.Val2527Ter
ENST00000530893.7:c.7210del	ENSP00000499438.2:p.Val2404Ter
ENST00000665585.2:c.7579del	ENSP00000499570.2:p.Val2527Ter
ENST00000666593.2:c.7579del	ENSP00000499256.2:p.Val2527Ter
ENST00000700202.2:c.7579del	ENSP00000514856.2:p.Val2527Ter
ENST00000700202.1:c.46del	ENSP00000514856.1:p.Val16Ter
ENST00000380152.8:c.7579del MANE Select	ENSP00000369497.3:p.Val2527Ter
ENST00000544455.6:c.7579del	ENSP00000439902.1:p.Val2527Ter
ENST00000614259.2:c.7579del	ENSP00000506251.1:p.Val2527Ter
ENST00000665585.1:c.144del
ENST00000680887.1:c.7579del	ENSP00000505508.1:p.Val2527Ter
ENST00000380152.7:c.7579del	ENSP00000369497.3:p.Val2527Ter
ENST00000544455.5:c.7579del	ENSP00000439902.1:p.Val2527Ter
ENST00000614259.1:n.7579del
NM_000059.3:c.7579del , LRG_293t1:c.7579del	NP_000050.2:p.Val2527Ter
XM_011535203.1:c.7579del	XP_011533505.1:p.Val2527Ter
XM_011535204.1:c.7483del	XP_011533506.1:p.Val2495Ter
XM_011535205.1:c.7579del	XP_011533507.1:p.Val2527Ter
NM_000059.4:c.7579del MANE Select	NP_000050.3:p.Val2527Ter