Canonical Allele Identifier: CA2499222401

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1095582
• ClinVar RCV Id: RCV001416488
• dbSNP Id: rs2137667100

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398658_32398659del , CM000675.2:g.32398658_32398659del	GRCh38
NC_000013.10:g.32972795_32972796del , CM000675.1:g.32972795_32972796del	GRCh37
NC_000013.9:g.31870795_31870796del	NCBI36
NG_012772.3:g.88179_88180del , LRG_293:g.88179_88180del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*668_*669del	ENSP00000434898.2:n.*668_*669del
ENST00000528762.2:c.*1512_*1513del	ENSP00000433168.2:n.*1512_*1513del
ENST00000530893.7:c.9776_9777del	ENSP00000499438.2:p.Leu3259GlnfsTer23
ENST00000665585.2:c.*1707_*1708del	ENSP00000499570.2:n.*1707_*1708del
ENST00000700202.2:c.10094_10095del	ENSP00000514856.2:p.Leu3365GlnfsTer23
ENST00000700202.1:c.2561_2562del	ENSP00000514856.1:p.Leu854GlnfsTer23
ENST00000700203.1:n.2272_2273del
ENST00000380152.8:c.10145_10146del MANE Select	ENSP00000369497.3:p.Leu3382GlnfsTer23
ENST00000544455.6:c.10145_10146del	ENSP00000439902.1:p.Leu3382GlnfsTer23
ENST00000614259.2:c.10153_10154del	ENSP00000506251.1:n.10153_10154del
ENST00000680887.1:c.10145_10146del	ENSP00000505508.1:p.Leu3382GlnfsTer23
ENST00000380152.7:c.10145_10146del	ENSP00000369497.3:p.Leu3382GlnfsTer23
ENST00000544455.5:c.10145_10146del	ENSP00000439902.1:p.Leu3382GlnfsTer23
NM_000059.3:c.10145_10146del , LRG_293t1:c.10145_10146del	NP_000050.2:p.Leu3382GlnfsTer23
XM_011535203.1:c.10145_10146del	XP_011533505.1:p.Leu3382GlnfsTer23
XM_011535204.1:c.10049_10050del	XP_011533506.1:p.Leu3350GlnfsTer23
NM_000059.4:c.10145_10146del MANE Select	NP_000050.3:p.Leu3382GlnfsTer23