Canonical Allele Identifier: CA025859

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52694
• ClinVar RCV Id: RCV000045646 ; RCV000077455 ; RCV000162940 ; RCV000223154 ; RCV003473426 ; RCV001310187
• dbSNP Id: rs80359140
• gnomAD v4: 13-32379440-C-T
• MyVariant Identifiers: chr13:g.32953577C>T (hg19) ; chr13:g.32379440C>T (hg38)
• PubMed: PMID:10449599 ; PMID:14531499 ; PMID:16764716 ; PMID:16982466 ; PMID:17224268 ; PMID:18821011 ; PMID:23165508 ; PMID:24312913 ; PMID:25863477 ; PMID:26852130 ; PMID:27425403

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379440C>T , CM000675.2:g.32379440C>T	GRCh38
NC_000013.10:g.32953577C>T , CM000675.1:g.32953577C>T	GRCh37
NC_000013.9:g.31851577C>T	NCBI36
NG_012772.3:g.68961C>T , LRG_293:g.68961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8878C>T	ENSP00000434898.2:p.Gln2960Ter
ENST00000528762.2:c.*245C>T	ENSP00000433168.2:n.*245C>T
ENST00000530893.7:c.8509C>T	ENSP00000499438.2:p.Gln2837Ter
ENST00000665585.2:c.*440C>T	ENSP00000499570.2:n.*440C>T
ENST00000666593.2:c.8878C>T	ENSP00000499256.2:p.Gln2960Ter
ENST00000700202.2:c.8878C>T	ENSP00000514856.2:p.Gln2960Ter
ENST00000700202.1:c.1345C>T	ENSP00000514856.1:p.Gln449Ter
ENST00000700203.1:n.1005C>T
ENST00000380152.8:c.8878C>T MANE Select	ENSP00000369497.3:p.Gln2960Ter
ENST00000544455.6:c.8878C>T	ENSP00000439902.1:p.Gln2960Ter
ENST00000614259.2:c.8886C>T	ENSP00000506251.1:n.8886C>T
ENST00000665585.1:c.1756C>T
ENST00000680887.1:c.8878C>T	ENSP00000505508.1:p.Gln2960Ter
ENST00000380152.7:c.8878C>T	ENSP00000369497.3:p.Gln2960Ter
ENST00000528762.1:c.440C>T	ENSP00000433168.1:n.440C>T
ENST00000544455.5:c.8878C>T	ENSP00000439902.1:p.Gln2960Ter
NM_000059.3:c.8878C>T , LRG_293t1:c.8878C>T	NP_000050.2:p.Gln2960Ter
XM_011535203.1:c.8878C>T	XP_011533505.1:p.Gln2960Ter
XM_011535204.1:c.8782C>T	XP_011533506.1:p.Gln2928Ter
XM_011535205.1:c.8755-310C>T	XP_011533507.1:n.8755-310C>T
NM_000059.4:c.8878C>T MANE Select	NP_000050.3:p.Gln2960Ter