Canonical Allele Identifier: CA025656

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 96867
• ClinVar RCV Id: RCV001800392
• dbSNP Id: rs397507988
• MyVariant Identifiers: chr13:g.32944670del (hg19) ; chr13:g.32370533del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370533del , CM000675.2:g.32370533del	GRCh38
NC_000013.10:g.32944670del , CM000675.1:g.32944670del	GRCh37
NC_000013.9:g.31842670del	NCBI36
NG_012772.3:g.60054del , LRG_293:g.60054del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8463del	ENSP00000434898.2:p.Ile2822PhefsTer?
ENST00000528762.2:c.8463del	ENSP00000433168.2:p.Ile2822PhefsTer?
ENST00000530893.7:c.8094del	ENSP00000499438.2:p.Ile2699PhefsTer?
ENST00000665585.2:c.8463del	ENSP00000499570.2:p.Ile2822PhefsTer?
ENST00000666593.2:c.8463del	ENSP00000499256.2:p.Ile2822PhefsTer?
ENST00000700202.2:c.8463del	ENSP00000514856.2:p.Ile2822PhefsTer?
ENST00000700202.1:c.930del	ENSP00000514856.1:p.Ile311PhefsTer?
ENST00000380152.8:c.8463del MANE Select	ENSP00000369497.3:p.Ile2822PhefsTer?
ENST00000544455.6:c.8463del	ENSP00000439902.1:p.Ile2822PhefsTer?
ENST00000614259.2:c.8471del	ENSP00000506251.1:n.8471del
ENST00000665585.1:c.1028del
ENST00000680887.1:c.8463del	ENSP00000505508.1:p.Ile2822PhefsTer?
ENST00000380152.7:c.8463del	ENSP00000369497.3:p.Ile2822PhefsTer?
ENST00000544455.5:c.8463del	ENSP00000439902.1:p.Ile2822PhefsTer?
NM_000059.3:c.8463del , LRG_293t1:c.8463del	NP_000050.2:p.Ile2822PhefsTer?
XM_011535203.1:c.8463del	XP_011533505.1:p.Ile2822PhefsTer?
XM_011535204.1:c.8367del	XP_011533506.1:p.Ile2790PhefsTer?
XM_011535205.1:c.8463del	XP_011533507.1:p.Ile2822PhefsTer?
NM_000059.4:c.8463del MANE Select	NP_000050.3:p.Ile2822PhefsTer?