Canonical Allele Identifier: CA024531

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38065
• ClinVar RCV Id: RCV002267806 ; RCV002490439 ; RCV003149599 ; RCV003904877
• dbSNP Id: rs276174878
• ExAC: 13:32893197 A / AT
• gnomAD v2: 13-32893197-A-AT
• gnomAD v3: 13-32319060-A-AT
• gnomAD v4: 13-32319060-A-AT
• MyVariant Identifiers: chr13:g.32893207dupT (hg19) ; chr13:g.32893198_32893199insT (hg19) ; chr13:g.32893197_32893198insT (hg19) ; chr13:g.32319070dupT (hg38) ; chr13:g.32319061_32319062insT (hg38) ; chr13:g.32319060_32319061insT (hg38)
• PubMed: PMID:18547621 ; PMID:22848303 ; PMID:25274553

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319070dup , CM000675.2:g.32319070dup	GRCh38
NC_000013.10:g.32893207dup , CM000675.1:g.32893207dup	GRCh37
NC_000013.9:g.31791207dup	NCBI36
NG_012772.3:g.8591dup , LRG_293:g.8591dup
NG_017006.2:g.1303dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.68-7dup	ENSP00000434898.2:n.68-7dup
ENST00000528762.2:c.68-7dup	ENSP00000433168.2:n.68-7dup
ENST00000530893.7:c.-302-7dup	ENSP00000499438.2:n.-302-7dup
ENST00000665585.2:c.68-7dup	ENSP00000499570.2:n.68-7dup
ENST00000666593.2:c.68-7dup	ENSP00000499256.2:n.68-7dup
ENST00000700202.2:c.68-7dup	ENSP00000514856.2:n.68-7dup
ENST00000700200.1:n.191+2543dup
ENST00000700201.1:c.68-7dup	ENSP00000514855.1:n.68-7dup
ENST00000380152.8:c.68-7dup MANE Select	ENSP00000369497.3:n.68-7dup
ENST00000544455.6:c.68-7dup	ENSP00000439902.1:n.68-7dup
ENST00000614259.2:c.68-7dup	ENSP00000506251.1:n.68-7dup
ENST00000680887.1:c.68-7dup	ENSP00000505508.1:n.68-7dup
ENST00000380152.7:c.68-7dup	ENSP00000369497.3:n.68-7dup
ENST00000530893.6:n.266-7dup
ENST00000544455.5:c.68-7dup	ENSP00000439902.1:n.68-7dup
ENST00000614259.1:n.68-7dup
NM_000059.3:c.68-7dup , LRG_293t1:c.68-7dup	NP_000050.2:n.68-7dup
XM_011535203.1:c.68-7dup	XP_011533505.1:n.68-7dup
XM_011535204.1:c.68-7dup	XP_011533506.1:n.68-7dup
XM_011535205.1:c.68-7dup	XP_011533507.1:n.68-7dup
NM_000059.4:c.68-7dup MANE Select	NP_000050.3:n.68-7dup