Canonical Allele Identifier: CA387755962

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1015908
• ClinVar RCV Id: RCV001314836 ; RCV003166799 ; RCV004005075
• dbSNP Id: rs2072898238
• MyVariant Identifiers: chr13:g.32953494A>G (hg19) ; chr13:g.32379357A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379357A>G , CM000675.2:g.32379357A>G	GRCh38
NC_000013.10:g.32953494A>G , CM000675.1:g.32953494A>G	GRCh37
NC_000013.9:g.31851494A>G	NCBI36
NG_012772.3:g.68878A>G , LRG_293:g.68878A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8795A>G	ENSP00000434898.2:p.His2932Arg
ENST00000528762.2:c.*162A>G	ENSP00000433168.2:n.*162A>G
ENST00000530893.7:c.8426A>G	ENSP00000499438.2:p.His2809Arg
ENST00000665585.2:c.*357A>G	ENSP00000499570.2:n.*357A>G
ENST00000666593.2:c.8795A>G	ENSP00000499256.2:p.His2932Arg
ENST00000700202.2:c.8795A>G	ENSP00000514856.2:p.His2932Arg
ENST00000700202.1:c.1262A>G	ENSP00000514856.1:p.His421Arg
ENST00000700203.1:n.922A>G
ENST00000380152.8:c.8795A>G MANE Select	ENSP00000369497.3:p.His2932Arg
ENST00000544455.6:c.8795A>G	ENSP00000439902.1:p.His2932Arg
ENST00000614259.2:c.8803A>G	ENSP00000506251.1:n.8803A>G
ENST00000665585.1:c.1673A>G
ENST00000680887.1:c.8795A>G	ENSP00000505508.1:p.His2932Arg
ENST00000380152.7:c.8795A>G	ENSP00000369497.3:p.His2932Arg
ENST00000528762.1:c.357A>G	ENSP00000433168.1:n.357A>G
ENST00000544455.5:c.8795A>G	ENSP00000439902.1:p.His2932Arg
NM_000059.3:c.8795A>G , LRG_293t1:c.8795A>G	NP_000050.2:p.His2932Arg
XM_011535203.1:c.8795A>G	XP_011533505.1:p.His2932Arg
XM_011535204.1:c.8699A>G	XP_011533506.1:p.His2900Arg
XM_011535205.1:c.8755-393A>G	XP_011533507.1:n.8755-393A>G
NM_000059.4:c.8795A>G MANE Select	NP_000050.3:p.His2932Arg