Canonical Allele Identifier: CA026354

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 182329
• ClinVar RCV Id: RCV000160318 ; RCV000217081 ; RCV000766660 ; RCV001082200 ; RCV001798547 ; RCV003998462
• dbSNP Id: rs730881621
• gnomAD v2: 13-32972643-TTC-T
• gnomAD v3: 13-32398506-TTC-T
• gnomAD v4: 13-32398506-TTC-T
• MyVariant Identifiers: chr13:g.32972647_32972648del (hg19) ; chr13:g.32972644_32972645del (hg19) ; chr13:g.32398510_32398511del (hg38) ; chr13:g.32398507_32398508del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398510_32398511del , CM000675.2:g.32398510_32398511del	GRCh38
NC_000013.10:g.32972647_32972648del , CM000675.1:g.32972647_32972648del	GRCh37
NC_000013.9:g.31870647_31870648del	NCBI36
NG_012772.3:g.88031_88032del , LRG_293:g.88031_88032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*520_*521del	ENSP00000434898.2:n.*520_*521del
ENST00000528762.2:c.*1364_*1365del	ENSP00000433168.2:n.*1364_*1365del
ENST00000530893.7:c.9628_9629del	ENSP00000499438.2:p.Leu3210PhefsTer4
ENST00000665585.2:c.*1559_*1560del	ENSP00000499570.2:n.*1559_*1560del
ENST00000700202.2:c.9946_9947del	ENSP00000514856.2:p.Leu3316PhefsTer4
ENST00000700202.1:c.2413_2414del	ENSP00000514856.1:p.Leu805PhefsTer4
ENST00000700203.1:n.2124_2125del
ENST00000380152.8:c.9997_9998del MANE Select	ENSP00000369497.3:p.Leu3333PhefsTer4
ENST00000544455.6:c.9997_9998del	ENSP00000439902.1:p.Leu3333PhefsTer4
ENST00000614259.2:c.10005_10006del	ENSP00000506251.1:n.10005_10006del
ENST00000680887.1:c.9997_9998del	ENSP00000505508.1:p.Leu3333PhefsTer4
ENST00000380152.7:c.9997_9998del	ENSP00000369497.3:p.Leu3333PhefsTer4
ENST00000544455.5:c.9997_9998del	ENSP00000439902.1:p.Leu3333PhefsTer4
NM_000059.3:c.9997_9998del , LRG_293t1:c.9997_9998del	NP_000050.2:p.Leu3333PhefsTer4
XM_011535203.1:c.9997_9998del	XP_011533505.1:p.Leu3333PhefsTer4
XM_011535204.1:c.9901_9902del	XP_011533506.1:p.Leu3301PhefsTer4
NM_000059.4:c.9997_9998del MANE Select	NP_000050.3:p.Leu3333PhefsTer4