Canonical Allele Identifier: CA023157

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51928
• ClinVar RCV Id: RCV000113478 ; RCV000129155 ; RCV000588333 ; RCV001085396
• dbSNP Id: rs80358804
• ExAC: 13:32914245 A / G
• gnomAD v2: 13-32914245-A-G
• gnomAD v3: 13-32340108-A-G
• gnomAD v4: 13-32340108-A-G
• MyVariant Identifiers: chr13:g.32914245A>G (hg19) ; chr13:g.32340108A>G (hg38)
• PubMed: PMID:10923033 ; PMID:23704879

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340108A>G , CM000675.2:g.32340108A>G	GRCh38
NC_000013.10:g.32914245A>G , CM000675.1:g.32914245A>G	GRCh37
NC_000013.9:g.31812245A>G	NCBI36
NG_012772.3:g.29629A>G , LRG_293:g.29629A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.5753A>G	ENSP00000434898.2:p.His1918Arg
ENST00000528762.2:c.5753A>G	ENSP00000433168.2:p.His1918Arg
ENST00000530893.7:c.5384A>G	ENSP00000499438.2:p.His1795Arg
ENST00000665585.2:c.5753A>G	ENSP00000499570.2:p.His1918Arg
ENST00000666593.2:c.5753A>G	ENSP00000499256.2:p.His1918Arg
ENST00000700202.2:c.5753A>G	ENSP00000514856.2:p.His1918Arg
ENST00000380152.8:c.5753A>G MANE Select	ENSP00000369497.3:p.His1918Arg
ENST00000544455.6:c.5753A>G	ENSP00000439902.1:p.His1918Arg
ENST00000614259.2:c.5753A>G	ENSP00000506251.1:p.His1918Arg
ENST00000680887.1:c.5753A>G	ENSP00000505508.1:p.His1918Arg
ENST00000380152.7:c.5753A>G	ENSP00000369497.3:p.His1918Arg
ENST00000544455.5:c.5753A>G	ENSP00000439902.1:p.His1918Arg
ENST00000614259.1:n.5753A>G
NM_000059.3:c.5753A>G , LRG_293t1:c.5753A>G	NP_000050.2:p.His1918Arg
XM_011535203.1:c.5753A>G	XP_011533505.1:p.His1918Arg
XM_011535204.1:c.5753A>G	XP_011533506.1:p.His1918Arg
XM_011535205.1:c.5753A>G	XP_011533507.1:p.His1918Arg
NM_000059.4:c.5753A>G MANE Select	NP_000050.3:p.His1918Arg