Canonical Allele Identifier: CA16614011

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 409569
• ClinVar RCV Id: RCV000470808 ; RCV000579735 ; RCV000661820
• dbSNP Id: rs1060502471
• MyVariant Identifiers: chr13:g.32945212del (hg19) ; chr13:g.32371075del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371075del , CM000675.2:g.32371075del	GRCh38
NC_000013.10:g.32945212del , CM000675.1:g.32945212del	GRCh37
NC_000013.9:g.31843212del	NCBI36
NG_012772.3:g.60596del , LRG_293:g.60596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8607del	ENSP00000434898.2:p.Gln2870ArgfsTer21
ENST00000528762.2:c.8607del	ENSP00000433168.2:p.Gln2870ArgfsTer16
ENST00000530893.7:c.8238del	ENSP00000499438.2:p.Gln2747ArgfsTer21
ENST00000665585.2:c.8607del	ENSP00000499570.2:p.Gln2870ArgfsTer22
ENST00000666593.2:c.8607del	ENSP00000499256.2:p.Gln2870ArgfsTer21
ENST00000700202.2:c.8607del	ENSP00000514856.2:p.Gln2870ArgfsTer21
ENST00000700202.1:c.1074del	ENSP00000514856.1:p.Gln359ArgfsTer21
ENST00000380152.8:c.8607del MANE Select	ENSP00000369497.3:p.Gln2870ArgfsTer21
ENST00000544455.6:c.8607del	ENSP00000439902.1:p.Gln2870ArgfsTer21
ENST00000614259.2:c.8615del	ENSP00000506251.1:n.8615del
ENST00000665585.1:c.1172del
ENST00000680887.1:c.8607del	ENSP00000505508.1:p.Gln2870ArgfsTer21
ENST00000380152.7:c.8607del	ENSP00000369497.3:p.Gln2870ArgfsTer21
ENST00000528762.1:c.105del	ENSP00000433168.1:p.Gln36ArgfsTer16
ENST00000544455.5:c.8607del	ENSP00000439902.1:p.Gln2870ArgfsTer21
NM_000059.3:c.8607del , LRG_293t1:c.8607del	NP_000050.2:p.Gln2870ArgfsTer21
XM_011535203.1:c.8607del	XP_011533505.1:p.Gln2870ArgfsTer21
XM_011535204.1:c.8511del	XP_011533506.1:p.Gln2838ArgfsTer21
XM_011535205.1:c.8607del	XP_011533507.1:p.Gln2870ArgfsTer21
NM_000059.4:c.8607del MANE Select	NP_000050.3:p.Gln2870ArgfsTer21