Canonical Allele Identifier: CA1139663228

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 993052
• ClinVar RCV Id: RCV001283933
• dbSNP Id: rs2072539817

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340199_32340211del , CM000675.2:g.32340199_32340211del	GRCh38
NC_000013.10:g.32914336_32914348del , CM000675.1:g.32914336_32914348del	GRCh37
NC_000013.9:g.31812336_31812348del	NCBI36
NG_012772.3:g.29720_29732del , LRG_293:g.29720_29732del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.5844_5856del	ENSP00000434898.2:p.Cys1948TrpfsTer11
ENST00000528762.2:c.5844_5856del	ENSP00000433168.2:p.Cys1948TrpfsTer11
ENST00000530893.7:c.5475_5487del	ENSP00000499438.2:p.Cys1825TrpfsTer11
ENST00000665585.2:c.5844_5856del	ENSP00000499570.2:p.Cys1948TrpfsTer11
ENST00000666593.2:c.5844_5856del	ENSP00000499256.2:p.Cys1948TrpfsTer11
ENST00000700202.2:c.5844_5856del	ENSP00000514856.2:p.Cys1948TrpfsTer11
ENST00000380152.8:c.5844_5856del MANE Select	ENSP00000369497.3:p.Cys1948TrpfsTer11
ENST00000544455.6:c.5844_5856del	ENSP00000439902.1:p.Cys1948TrpfsTer11
ENST00000614259.2:c.5844_5856del	ENSP00000506251.1:p.Cys1948TrpfsTer11
ENST00000680887.1:c.5844_5856del	ENSP00000505508.1:p.Cys1948TrpfsTer11
ENST00000380152.7:c.5844_5856del	ENSP00000369497.3:p.Cys1948TrpfsTer11
ENST00000544455.5:c.5844_5856del	ENSP00000439902.1:p.Cys1948TrpfsTer11
ENST00000614259.1:n.5844_5856del
NM_000059.3:c.5844_5856del , LRG_293t1:c.5844_5856del	NP_000050.2:p.Cys1948TrpfsTer11
XM_011535203.1:c.5844_5856del	XP_011533505.1:p.Cys1948TrpfsTer11
XM_011535204.1:c.5844_5856del	XP_011533506.1:p.Cys1948TrpfsTer11
XM_011535205.1:c.5844_5856del	XP_011533507.1:p.Cys1948TrpfsTer11
NM_000059.4:c.5844_5856del MANE Select	NP_000050.3:p.Cys1948TrpfsTer11