Canonical Allele Identifier: CA2499222339

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1051066
• ClinVar RCV Id: RCV001359055
• dbSNP Id: rs2137613269

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376760_32376761delinsGT , CM000675.2:g.32376760_32376761delinsGT	GRCh38
NC_000013.10:g.32950897_32950898delinsGT , CM000675.1:g.32950897_32950898delinsGT	GRCh37
NC_000013.9:g.31848897_31848898delinsGT	NCBI36
NG_012772.3:g.66281_66282delinsGT , LRG_293:g.66281_66282delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8723_8724delinsGT	ENSP00000434898.2:p.Val2908Gly
ENST00000528762.2:c.*90_*91delinsGT	ENSP00000433168.2:n.*90_*91delinsGT
ENST00000530893.7:c.8354_8355delinsGT	ENSP00000499438.2:p.Val2785Gly
ENST00000665585.2:c.*285_*286delinsGT	ENSP00000499570.2:n.*285_*286delinsGT
ENST00000666593.2:c.8723_8724delinsGT	ENSP00000499256.2:p.Val2908Gly
ENST00000700202.2:c.8723_8724delinsGT	ENSP00000514856.2:p.Val2908Gly
ENST00000700202.1:c.1190_1191delinsGT	ENSP00000514856.1:p.Val397Gly
ENST00000700203.1:n.850_851delinsGT
ENST00000380152.8:c.8723_8724delinsGT MANE Select	ENSP00000369497.3:p.Val2908Gly
ENST00000544455.6:c.8723_8724delinsGT	ENSP00000439902.1:p.Val2908Gly
ENST00000614259.2:c.8731_8732delinsGT	ENSP00000506251.1:n.8731_8732delinsGT
ENST00000665585.1:c.1601_1602delinsGT
ENST00000680887.1:c.8723_8724delinsGT	ENSP00000505508.1:p.Val2908Gly
ENST00000380152.7:c.8723_8724delinsGT	ENSP00000369497.3:p.Val2908Gly
ENST00000528762.1:c.285_286delinsGT	ENSP00000433168.1:n.285_286delinsGT
ENST00000544455.5:c.8723_8724delinsGT	ENSP00000439902.1:p.Val2908Gly
NM_000059.3:c.8723_8724delinsGT , LRG_293t1:c.8723_8724delinsGT	NP_000050.2:p.Val2908Gly
XM_011535203.1:c.8723_8724delinsGT	XP_011533505.1:p.Val2908Gly
XM_011535204.1:c.8627_8628delinsGT	XP_011533506.1:p.Val2876Gly
XM_011535205.1:c.8723_8724delinsGT	XP_011533507.1:p.Val2908Gly
NM_000059.4:c.8723_8724delinsGT MANE Select	NP_000050.3:p.Val2908Gly