Canonical Allele Identifier: CA387770650

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1446403
• ClinVar RCV Id: RCV001987656 ; RCV003156893
• dbSNP Id: rs1131692117
• MyVariant Identifiers: chr13:g.32910709C>G (hg19) ; chr13:g.32336572C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336572C>G , CM000675.2:g.32336572C>G	GRCh38
NC_000013.10:g.32910709C>G , CM000675.1:g.32910709C>G	GRCh37
NC_000013.9:g.31808709C>G	NCBI36
NG_012772.3:g.26093C>G , LRG_293:g.26093C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2217C>G	ENSP00000434898.2:p.His739Gln
ENST00000528762.2:c.2217C>G	ENSP00000433168.2:p.His739Gln
ENST00000530893.7:c.1848C>G	ENSP00000499438.2:p.His616Gln
ENST00000665585.2:c.2217C>G	ENSP00000499570.2:p.His739Gln
ENST00000666593.2:c.2217C>G	ENSP00000499256.2:p.His739Gln
ENST00000700202.2:c.2217C>G	ENSP00000514856.2:p.His739Gln
ENST00000380152.8:c.2217C>G MANE Select	ENSP00000369497.3:p.His739Gln
ENST00000544455.6:c.2217C>G	ENSP00000439902.1:p.His739Gln
ENST00000614259.2:c.2217C>G	ENSP00000506251.1:p.His739Gln
ENST00000680887.1:c.2217C>G	ENSP00000505508.1:p.His739Gln
ENST00000380152.7:c.2217C>G	ENSP00000369497.3:p.His739Gln
ENST00000544455.5:c.2217C>G	ENSP00000439902.1:p.His739Gln
ENST00000614259.1:n.2217C>G
NM_000059.3:c.2217C>G , LRG_293t1:c.2217C>G	NP_000050.2:p.His739Gln
XM_011535203.1:c.2217C>G	XP_011533505.1:p.His739Gln
XM_011535204.1:c.2217C>G	XP_011533506.1:p.His739Gln
XM_011535205.1:c.2217C>G	XP_011533507.1:p.His739Gln
NM_000059.4:c.2217C>G MANE Select	NP_000050.3:p.His739Gln