Canonical Allele Identifier: CA10589507

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267097
• ClinVar RCV Id: RCV000257876 ; RCV000637754
• dbSNP Id: rs886040782
• MyVariant Identifiers: chr13:g.32945167del (hg19) ; chr13:g.32371030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371030del , CM000675.2:g.32371030del	GRCh38
NC_000013.10:g.32945167del , CM000675.1:g.32945167del	GRCh37
NC_000013.9:g.31843167del	NCBI36
NG_012772.3:g.60551del , LRG_293:g.60551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8562del	ENSP00000434898.2:p.Tyr2854Ter
ENST00000528762.2:c.8562del	ENSP00000433168.2:p.Tyr2854Ter
ENST00000530893.7:c.8193del	ENSP00000499438.2:p.Tyr2731Ter
ENST00000665585.2:c.8562del	ENSP00000499570.2:p.Tyr2854Ter
ENST00000666593.2:c.8562del	ENSP00000499256.2:p.Tyr2854Ter
ENST00000700202.2:c.8562del	ENSP00000514856.2:p.Tyr2854Ter
ENST00000700202.1:c.1029del	ENSP00000514856.1:p.Tyr343Ter
ENST00000380152.8:c.8562del MANE Select	ENSP00000369497.3:p.Tyr2854Ter
ENST00000544455.6:c.8562del	ENSP00000439902.1:p.Tyr2854Ter
ENST00000614259.2:c.8570del	ENSP00000506251.1:n.8570del
ENST00000665585.1:c.1127del
ENST00000680887.1:c.8562del	ENSP00000505508.1:p.Tyr2854Ter
ENST00000380152.7:c.8562del	ENSP00000369497.3:p.Tyr2854Ter
ENST00000528762.1:c.60del	ENSP00000433168.1:p.Tyr20Ter
ENST00000544455.5:c.8562del	ENSP00000439902.1:p.Tyr2854Ter
NM_000059.3:c.8562del , LRG_293t1:c.8562del	NP_000050.2:p.Tyr2854Ter
XM_011535203.1:c.8562del	XP_011533505.1:p.Tyr2854Ter
XM_011535204.1:c.8466del	XP_011533506.1:p.Tyr2822Ter
XM_011535205.1:c.8562del	XP_011533507.1:p.Tyr2854Ter
NM_000059.4:c.8562del MANE Select	NP_000050.3:p.Tyr2854Ter