Canonical Allele Identifier: CA336502

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 216857
• ClinVar RCV Id: RCV000196534 ; RCV000241241 ; RCV000480587 ; RCV002415858
• dbSNP Id: rs863224828
• MyVariant Identifiers: chr13:g.32936800del (hg19) ; chr13:g.32362663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362663del , CM000675.2:g.32362663del	GRCh38
NC_000013.10:g.32936800del , CM000675.1:g.32936800del	GRCh37
NC_000013.9:g.31834800del	NCBI36
NG_012772.3:g.52184del , LRG_293:g.52184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7946del	ENSP00000434898.2:p.Pro2649GlnfsTer8
ENST00000528762.2:c.7946del	ENSP00000433168.2:p.Pro2649GlnfsTer8
ENST00000530893.7:c.7577del	ENSP00000499438.2:p.Pro2526GlnfsTer8
ENST00000665585.2:c.7946del	ENSP00000499570.2:p.Pro2649GlnfsTer8
ENST00000666593.2:c.7946del	ENSP00000499256.2:p.Pro2649GlnfsTer8
ENST00000700202.2:c.7946del	ENSP00000514856.2:p.Pro2649GlnfsTer8
ENST00000700202.1:c.413del	ENSP00000514856.1:p.Pro138GlnfsTer8
ENST00000380152.8:c.7946del MANE Select	ENSP00000369497.3:p.Pro2649GlnfsTer8
ENST00000544455.6:c.7946del	ENSP00000439902.1:p.Pro2649GlnfsTer8
ENST00000614259.2:c.7954del	ENSP00000506251.1:n.7954del
ENST00000665585.1:c.511del
ENST00000680887.1:c.7946del	ENSP00000505508.1:p.Pro2649GlnfsTer8
ENST00000380152.7:c.7946del	ENSP00000369497.3:p.Pro2649GlnfsTer8
ENST00000544455.5:c.7946del	ENSP00000439902.1:p.Pro2649GlnfsTer8
NM_000059.3:c.7946del , LRG_293t1:c.7946del	NP_000050.2:p.Pro2649GlnfsTer8
XM_011535203.1:c.7946del	XP_011533505.1:p.Pro2649GlnfsTer8
XM_011535204.1:c.7850del	XP_011533506.1:p.Pro2617GlnfsTer8
XM_011535205.1:c.7946del	XP_011533507.1:p.Pro2649GlnfsTer8
NM_000059.4:c.7946del MANE Select	NP_000050.3:p.Pro2649GlnfsTer8