Canonical Allele Identifier: CA023588

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 185748
• ClinVar RCV Id: RCV000165232 ; RCV000588995 ; RCV001364172 ; RCV003483536
• dbSNP Id: rs780621780
• MyVariant Identifiers: chr13:g.32914554A>G (hg19) ; chr13:g.32340417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340417A>G , CM000675.2:g.32340417A>G	GRCh38
NC_000013.10:g.32914554A>G , CM000675.1:g.32914554A>G	GRCh37
NC_000013.9:g.31812554A>G	NCBI36
NG_012772.3:g.29938A>G , LRG_293:g.29938A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6062A>G	ENSP00000434898.2:p.His2021Arg
ENST00000528762.2:c.6062A>G	ENSP00000433168.2:p.His2021Arg
ENST00000530893.7:c.5693A>G	ENSP00000499438.2:p.His1898Arg
ENST00000665585.2:c.6062A>G	ENSP00000499570.2:p.His2021Arg
ENST00000666593.2:c.6062A>G	ENSP00000499256.2:p.His2021Arg
ENST00000700202.2:c.6062A>G	ENSP00000514856.2:p.His2021Arg
ENST00000380152.8:c.6062A>G MANE Select	ENSP00000369497.3:p.His2021Arg
ENST00000544455.6:c.6062A>G	ENSP00000439902.1:p.His2021Arg
ENST00000614259.2:c.6062A>G	ENSP00000506251.1:p.His2021Arg
ENST00000680887.1:c.6062A>G	ENSP00000505508.1:p.His2021Arg
ENST00000380152.7:c.6062A>G	ENSP00000369497.3:p.His2021Arg
ENST00000544455.5:c.6062A>G	ENSP00000439902.1:p.His2021Arg
ENST00000614259.1:n.6062A>G
NM_000059.3:c.6062A>G , LRG_293t1:c.6062A>G	NP_000050.2:p.His2021Arg
XM_011535203.1:c.6062A>G	XP_011533505.1:p.His2021Arg
XM_011535204.1:c.6062A>G	XP_011533506.1:p.His2021Arg
XM_011535205.1:c.6062A>G	XP_011533507.1:p.His2021Arg
NM_000059.4:c.6062A>G MANE Select	NP_000050.3:p.His2021Arg