Canonical Allele Identifier: CA658761148

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1781735
• ClinVar RCV Id: RCV002415152
• PubMed: PMID:24504028

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333352_32333353del , CM000675.2:g.32333352_32333353del	GRCh38
NC_000013.10:g.32907489_32907490del , CM000675.1:g.32907489_32907490del	GRCh37
NC_000013.9:g.31805489_31805490del	NCBI36
NG_012772.3:g.22873_22874del , LRG_293:g.22873_22874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1874_1875del	ENSP00000434898.2:p.Phe625Ter
ENST00000528762.2:c.1874_1875del	ENSP00000433168.2:p.Phe625Ter
ENST00000530893.7:c.1505_1506del	ENSP00000499438.2:p.Phe502Ter
ENST00000665585.2:c.1874_1875del	ENSP00000499570.2:p.Phe625Ter
ENST00000666593.2:c.1874_1875del	ENSP00000499256.2:p.Phe625Ter
ENST00000700202.2:c.1874_1875del	ENSP00000514856.2:p.Phe625Ter
ENST00000380152.8:c.1874_1875del MANE Select	ENSP00000369497.3:p.Phe625Ter
ENST00000544455.6:c.1874_1875del	ENSP00000439902.1:p.Phe625Ter
ENST00000614259.2:c.1874_1875del	ENSP00000506251.1:p.Phe625Ter
ENST00000680887.1:c.1874_1875del	ENSP00000505508.1:p.Phe625Ter
ENST00000380152.7:c.1874_1875del	ENSP00000369497.3:p.Phe625Ter
ENST00000544455.5:c.1874_1875del	ENSP00000439902.1:p.Phe625Ter
ENST00000614259.1:n.1874_1875del
NM_000059.3:c.1874_1875del , LRG_293t1:c.1874_1875del	NP_000050.2:p.Phe625Ter
XM_011535203.1:c.1874_1875del	XP_011533505.1:p.Phe625Ter
XM_011535204.1:c.1874_1875del	XP_011533506.1:p.Phe625Ter
XM_011535205.1:c.1874_1875del	XP_011533507.1:p.Phe625Ter
NM_000059.4:c.1874_1875del MANE Select	NP_000050.3:p.Phe625Ter