Canonical Allele Identifier: CA658761178

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1458441
• ClinVar RCV Id: RCV001956373 ; RCV002370613 ; RCV003475246
• dbSNP Id: rs2137612282
• PubMed: PMID:18594331

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376676_32376680del , CM000675.2:g.32376676_32376680del	GRCh38
NC_000013.10:g.32950813_32950817del , CM000675.1:g.32950813_32950817del	GRCh37
NC_000013.9:g.31848813_31848817del	NCBI36
NG_012772.3:g.66197_66201del , LRG_293:g.66197_66201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8639_8643del	ENSP00000434898.2:p.Thr2880LysfsTer25
ENST00000528762.2:c.*6_*10del	ENSP00000433168.2:n.*6_*10del
ENST00000530893.7:c.8270_8274del	ENSP00000499438.2:p.Thr2757LysfsTer25
ENST00000665585.2:c.*201_*205del	ENSP00000499570.2:n.*201_*205del
ENST00000666593.2:c.8639_8643del	ENSP00000499256.2:p.Thr2880LysfsTer25
ENST00000700202.2:c.8639_8643del	ENSP00000514856.2:p.Thr2880LysfsTer25
ENST00000700202.1:c.1106_1110del	ENSP00000514856.1:p.Thr369LysfsTer25
ENST00000700203.1:n.766_770del
ENST00000380152.8:c.8639_8643del MANE Select	ENSP00000369497.3:p.Thr2880LysfsTer25
ENST00000544455.6:c.8639_8643del	ENSP00000439902.1:p.Thr2880LysfsTer25
ENST00000614259.2:c.8647_8651del	ENSP00000506251.1:n.8647_8651del
ENST00000665585.1:c.1517_1521del
ENST00000680887.1:c.8639_8643del	ENSP00000505508.1:p.Thr2880LysfsTer25
ENST00000380152.7:c.8639_8643del	ENSP00000369497.3:p.Thr2880LysfsTer25
ENST00000528762.1:c.201_205del	ENSP00000433168.1:n.201_205del
ENST00000544455.5:c.8639_8643del	ENSP00000439902.1:p.Thr2880LysfsTer25
NM_000059.3:c.8639_8643del , LRG_293t1:c.8639_8643del	NP_000050.2:p.Thr2880LysfsTer25
XM_011535203.1:c.8639_8643del	XP_011533505.1:p.Thr2880LysfsTer25
XM_011535204.1:c.8543_8547del	XP_011533506.1:p.Thr2848LysfsTer25
XM_011535205.1:c.8639_8643del	XP_011533507.1:p.Thr2880LysfsTer25
NM_000059.4:c.8639_8643del MANE Select	NP_000050.3:p.Thr2880LysfsTer25