Canonical Allele Identifier: CA023107

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 96827
• ClinVar RCV Id: RCV000082948 ; RCV000130867 ; RCV000168581 ; RCV000257905 ; RCV000588195 ; RCV003149769
• dbSNP Id: rs80358799
• gnomAD v2: 13-32914229-T-G
• gnomAD v3: 13-32340092-T-G
• gnomAD v4: 13-32340092-T-G
• MyVariant Identifiers: chr13:g.32914229T>G (hg19) ; chr13:g.32340092T>G (hg38)
• PubMed: PMID:20858050

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340092T>G , CM000675.2:g.32340092T>G	GRCh38
NC_000013.10:g.32914229T>G , CM000675.1:g.32914229T>G	GRCh37
NC_000013.9:g.31812229T>G	NCBI36
NG_012772.3:g.29613T>G , LRG_293:g.29613T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5737T>G	ENSP00000434898.2:p.Cys1913Gly
ENST00000528762.2:c.5737T>G	ENSP00000433168.2:p.Cys1913Gly
ENST00000530893.7:c.5368T>G	ENSP00000499438.2:p.Cys1790Gly
ENST00000665585.2:c.5737T>G	ENSP00000499570.2:p.Cys1913Gly
ENST00000666593.2:c.5737T>G	ENSP00000499256.2:p.Cys1913Gly
ENST00000700202.2:c.5737T>G	ENSP00000514856.2:p.Cys1913Gly
ENST00000380152.8:c.5737T>G MANE Select	ENSP00000369497.3:p.Cys1913Gly
ENST00000544455.6:c.5737T>G	ENSP00000439902.1:p.Cys1913Gly
ENST00000614259.2:c.5737T>G	ENSP00000506251.1:p.Cys1913Gly
ENST00000680887.1:c.5737T>G	ENSP00000505508.1:p.Cys1913Gly
ENST00000380152.7:c.5737T>G	ENSP00000369497.3:p.Cys1913Gly
ENST00000544455.5:c.5737T>G	ENSP00000439902.1:p.Cys1913Gly
ENST00000614259.1:n.5737T>G
NM_000059.3:c.5737T>G , LRG_293t1:c.5737T>G	NP_000050.2:p.Cys1913Gly
XM_011535203.1:c.5737T>G	XP_011533505.1:p.Cys1913Gly
XM_011535204.1:c.5737T>G	XP_011533506.1:p.Cys1913Gly
XM_011535205.1:c.5737T>G	XP_011533507.1:p.Cys1913Gly
NM_000059.4:c.5737T>G MANE Select	NP_000050.3:p.Cys1913Gly