Canonical Allele Identifier: CA658683850

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491324
• ClinVar RCV Id: RCV000583945
• dbSNP Id: rs1555286255
• MyVariant Identifiers: chr13:g.32930633_32930640del (hg19) ; chr13:g.32356496_32356503del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356496_32356503del , CM000675.2:g.32356496_32356503del	GRCh38
NC_000013.10:g.32930633_32930640del , CM000675.1:g.32930633_32930640del	GRCh37
NC_000013.9:g.31828633_31828640del	NCBI36
NG_012772.3:g.46017_46024del , LRG_293:g.46017_46024del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7504_7511del	ENSP00000434898.2:p.Arg2502SerfsTer?
ENST00000528762.2:c.7504_7511del	ENSP00000433168.2:p.Arg2502SerfsTer?
ENST00000530893.7:c.7135_7142del	ENSP00000499438.2:p.Arg2379SerfsTer?
ENST00000665585.2:c.7504_7511del	ENSP00000499570.2:p.Arg2502SerfsTer?
ENST00000666593.2:c.7504_7511del	ENSP00000499256.2:p.Arg2502SerfsTer?
ENST00000700202.2:c.7504_7511del	ENSP00000514856.2:p.Arg2502SerfsTer?
ENST00000380152.8:c.7504_7511del MANE Select	ENSP00000369497.3:p.Arg2502SerfsTer?
ENST00000544455.6:c.7504_7511del	ENSP00000439902.1:p.Arg2502SerfsTer?
ENST00000614259.2:c.7504_7511del	ENSP00000506251.1:p.Arg2502SerfsTer?
ENST00000665585.1:c.69_76del
ENST00000680887.1:c.7504_7511del	ENSP00000505508.1:p.Arg2502SerfsTer?
ENST00000380152.7:c.7504_7511del	ENSP00000369497.3:p.Arg2502SerfsTer?
ENST00000544455.5:c.7504_7511del	ENSP00000439902.1:p.Arg2502SerfsTer?
ENST00000614259.1:n.7504_7511del
NM_000059.3:c.7504_7511del , LRG_293t1:c.7504_7511del	NP_000050.2:p.Arg2502SerfsTer?
XM_011535203.1:c.7504_7511del	XP_011533505.1:p.Arg2502SerfsTer?
XM_011535204.1:c.7408_7415del	XP_011533506.1:p.Arg2470SerfsTer?
XM_011535205.1:c.7504_7511del	XP_011533507.1:p.Arg2502SerfsTer?
NM_000059.4:c.7504_7511del MANE Select	NP_000050.3:p.Arg2502SerfsTer?