Canonical Allele Identifier: CA10586591

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 254625
• ClinVar RCV Id: RCV000241244 ; RCV000637527 ; RCV001180789 ; RCV002226460 ; RCV003133197
• dbSNP Id: rs886038184
• MyVariant Identifiers: chr13:g.32950813_32950814del (hg19) ; chr13:g.32376676_32376677del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376676_32376677del , CM000675.2:g.32376676_32376677del	GRCh38
NC_000013.10:g.32950813_32950814del , CM000675.1:g.32950813_32950814del	GRCh37
NC_000013.9:g.31848813_31848814del	NCBI36
NG_012772.3:g.66197_66198del , LRG_293:g.66197_66198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8639_8640del	ENSP00000434898.2:p.Thr2880AsnfsTer26
ENST00000528762.2:c.*6_*7del	ENSP00000433168.2:n.*6_*7del
ENST00000530893.7:c.8270_8271del	ENSP00000499438.2:p.Thr2757AsnfsTer26
ENST00000665585.2:c.*201_*202del	ENSP00000499570.2:n.*201_*202del
ENST00000666593.2:c.8639_8640del	ENSP00000499256.2:p.Thr2880AsnfsTer26
ENST00000700202.2:c.8639_8640del	ENSP00000514856.2:p.Thr2880AsnfsTer26
ENST00000700202.1:c.1106_1107del	ENSP00000514856.1:p.Thr369AsnfsTer26
ENST00000700203.1:n.766_767del
ENST00000380152.8:c.8639_8640del MANE Select	ENSP00000369497.3:p.Thr2880AsnfsTer26
ENST00000544455.6:c.8639_8640del	ENSP00000439902.1:p.Thr2880AsnfsTer26
ENST00000614259.2:c.8647_8648del	ENSP00000506251.1:n.8647_8648del
ENST00000665585.1:c.1517_1518del
ENST00000680887.1:c.8639_8640del	ENSP00000505508.1:p.Thr2880AsnfsTer26
ENST00000380152.7:c.8639_8640del	ENSP00000369497.3:p.Thr2880AsnfsTer26
ENST00000528762.1:c.201_202del	ENSP00000433168.1:n.201_202del
ENST00000544455.5:c.8639_8640del	ENSP00000439902.1:p.Thr2880AsnfsTer26
NM_000059.3:c.8639_8640del , LRG_293t1:c.8639_8640del	NP_000050.2:p.Thr2880AsnfsTer26
XM_011535203.1:c.8639_8640del	XP_011533505.1:p.Thr2880AsnfsTer26
XM_011535204.1:c.8543_8544del	XP_011533506.1:p.Thr2848AsnfsTer26
XM_011535205.1:c.8639_8640del	XP_011533507.1:p.Thr2880AsnfsTer26
NM_000059.4:c.8639_8640del MANE Select	NP_000050.3:p.Thr2880AsnfsTer26