Canonical Allele Identifier: CA387755967

Gene: BRCA2

Linked Data

• dbSNP Id: rs1225836672
• gnomAD v2: 13-32953495-C-G
• gnomAD v4: 13-32379358-C-G
• MyVariant Identifiers: chr13:g.32953495C>G (hg19) ; chr13:g.32379358C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379358C>G , CM000675.2:g.32379358C>G	GRCh38
NC_000013.10:g.32953495C>G , CM000675.1:g.32953495C>G	GRCh37
NC_000013.9:g.31851495C>G	NCBI36
NG_012772.3:g.68879C>G , LRG_293:g.68879C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8796C>G	ENSP00000434898.2:p.His2932Gln
ENST00000528762.2:c.*163C>G	ENSP00000433168.2:n.*163C>G
ENST00000530893.7:c.8427C>G	ENSP00000499438.2:p.His2809Gln
ENST00000665585.2:c.*358C>G	ENSP00000499570.2:n.*358C>G
ENST00000666593.2:c.8796C>G	ENSP00000499256.2:p.His2932Gln
ENST00000700202.2:c.8796C>G	ENSP00000514856.2:p.His2932Gln
ENST00000700202.1:c.1263C>G	ENSP00000514856.1:p.His421Gln
ENST00000700203.1:n.923C>G
ENST00000380152.8:c.8796C>G MANE Select	ENSP00000369497.3:p.His2932Gln
ENST00000544455.6:c.8796C>G	ENSP00000439902.1:p.His2932Gln
ENST00000614259.2:c.8804C>G	ENSP00000506251.1:n.8804C>G
ENST00000665585.1:c.1674C>G
ENST00000680887.1:c.8796C>G	ENSP00000505508.1:p.His2932Gln
ENST00000380152.7:c.8796C>G	ENSP00000369497.3:p.His2932Gln
ENST00000528762.1:c.358C>G	ENSP00000433168.1:n.358C>G
ENST00000544455.5:c.8796C>G	ENSP00000439902.1:p.His2932Gln
NM_000059.3:c.8796C>G , LRG_293t1:c.8796C>G	NP_000050.2:p.His2932Gln
XM_011535203.1:c.8796C>G	XP_011533505.1:p.His2932Gln
XM_011535204.1:c.8700C>G	XP_011533506.1:p.His2900Gln
XM_011535205.1:c.8755-392C>G	XP_011533507.1:n.8755-392C>G
NM_000059.4:c.8796C>G MANE Select	NP_000050.3:p.His2932Gln