Canonical Allele Identifier: CA024050

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52100
• ClinVar RCV Id: RCV000113590 ; RCV000985566 ; RCV002362669 ; RCV001310129 ; RCV001384917 ; RCV003473377
• dbSNP Id: rs80359592
• MyVariant Identifiers: chr13:g.32914937_32914938del (hg19) ; chr13:g.32340800_32340801del (hg38)
• PubMed: PMID:11857748

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340800_32340801del , CM000675.2:g.32340800_32340801del	GRCh38
NC_000013.10:g.32914937_32914938del , CM000675.1:g.32914937_32914938del	GRCh37
NC_000013.9:g.31812937_31812938del	NCBI36
NG_012772.3:g.30321_30322del , LRG_293:g.30321_30322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6445_6446del	ENSP00000434898.2:p.Ile2149Ter
ENST00000528762.2:c.6445_6446del	ENSP00000433168.2:p.Ile2149Ter
ENST00000530893.7:c.6076_6077del	ENSP00000499438.2:p.Ile2026Ter
ENST00000665585.2:c.6445_6446del	ENSP00000499570.2:p.Ile2149Ter
ENST00000666593.2:c.6445_6446del	ENSP00000499256.2:p.Ile2149Ter
ENST00000700202.2:c.6445_6446del	ENSP00000514856.2:p.Ile2149Ter
ENST00000380152.8:c.6445_6446del MANE Select	ENSP00000369497.3:p.Ile2149Ter
ENST00000544455.6:c.6445_6446del	ENSP00000439902.1:p.Ile2149Ter
ENST00000614259.2:c.6445_6446del	ENSP00000506251.1:p.Ile2149Ter
ENST00000680887.1:c.6445_6446del	ENSP00000505508.1:p.Ile2149Ter
ENST00000380152.7:c.6445_6446del	ENSP00000369497.3:p.Ile2149Ter
ENST00000544455.5:c.6445_6446del	ENSP00000439902.1:p.Ile2149Ter
ENST00000614259.1:n.6445_6446del
NM_000059.3:c.6445_6446del , LRG_293t1:c.6445_6446del	NP_000050.2:p.Ile2149Ter
XM_011535203.1:c.6445_6446del	XP_011533505.1:p.Ile2149Ter
XM_011535204.1:c.6445_6446del	XP_011533506.1:p.Ile2149Ter
XM_011535205.1:c.6445_6446del	XP_011533507.1:p.Ile2149Ter
NM_000059.4:c.6445_6446del MANE Select	NP_000050.3:p.Ile2149Ter