Canonical Allele Identifier: CA1139663103

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 946054
• ClinVar RCV Id: RCV001216838
• dbSNP Id: rs2072403503

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32332535_32332536del , CM000675.2:g.32332535_32332536del	GRCh38
NC_000013.10:g.32906672_32906673del , CM000675.1:g.32906672_32906673del	GRCh37
NC_000013.9:g.31804672_31804673del	NCBI36
NG_012772.3:g.22056_22057del , LRG_293:g.22056_22057del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.1057_1058del	ENSP00000434898.2:p.Ser353IlefsTer4
ENST00000528762.2:c.1057_1058del	ENSP00000433168.2:p.Ser353IlefsTer4
ENST00000530893.7:c.688_689del	ENSP00000499438.2:p.Ser230IlefsTer4
ENST00000665585.2:c.1057_1058del	ENSP00000499570.2:p.Ser353IlefsTer4
ENST00000666593.2:c.1057_1058del	ENSP00000499256.2:p.Ser353IlefsTer4
ENST00000700202.2:c.1057_1058del	ENSP00000514856.2:p.Ser353IlefsTer4
ENST00000700201.1:c.*836_*837del	ENSP00000514855.1:n.*836_*837del
ENST00000380152.8:c.1057_1058del MANE Select	ENSP00000369497.3:p.Ser353IlefsTer4
ENST00000544455.6:c.1057_1058del	ENSP00000439902.1:p.Ser353IlefsTer4
ENST00000614259.2:c.1057_1058del	ENSP00000506251.1:p.Ser353IlefsTer4
ENST00000680887.1:c.1057_1058del	ENSP00000505508.1:p.Ser353IlefsTer4
ENST00000380152.7:c.1057_1058del	ENSP00000369497.3:p.Ser353IlefsTer4
ENST00000530893.6:n.1255_1256del
ENST00000544455.5:c.1057_1058del	ENSP00000439902.1:p.Ser353IlefsTer4
ENST00000614259.1:n.1057_1058del
NM_000059.3:c.1057_1058del , LRG_293t1:c.1057_1058del	NP_000050.2:p.Ser353IlefsTer4
XM_011535203.1:c.1057_1058del	XP_011533505.1:p.Ser353IlefsTer4
XM_011535204.1:c.1057_1058del	XP_011533506.1:p.Ser353IlefsTer4
XM_011535205.1:c.1057_1058del	XP_011533507.1:p.Ser353IlefsTer4
NM_000059.4:c.1057_1058del MANE Select	NP_000050.3:p.Ser353IlefsTer4