Canonical Allele Identifier: CA387757453

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 479379
• ClinVar RCV Id: RCV000562479
• dbSNP Id: rs1555288459
• MyVariant Identifiers: chr13:g.32953938A>G (hg19) ; chr13:g.32379801A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379801A>G , CM000675.2:g.32379801A>G	GRCh38
NC_000013.10:g.32953938A>G , CM000675.1:g.32953938A>G	GRCh37
NC_000013.9:g.31851938A>G	NCBI36
NG_012772.3:g.69322A>G , LRG_293:g.69322A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9005A>G	ENSP00000434898.2:p.Glu3002Gly
ENST00000528762.2:c.*372A>G	ENSP00000433168.2:n.*372A>G
ENST00000530893.7:c.8636A>G	ENSP00000499438.2:p.Glu2879Gly
ENST00000665585.2:c.*567A>G	ENSP00000499570.2:n.*567A>G
ENST00000666593.2:c.9005A>G	ENSP00000499256.2:p.Glu3002Gly
ENST00000700202.2:c.8954A>G	ENSP00000514856.2:p.Glu2985Gly
ENST00000700202.1:c.1421A>G	ENSP00000514856.1:p.Glu474Gly
ENST00000700203.1:n.1132A>G
ENST00000380152.8:c.9005A>G MANE Select	ENSP00000369497.3:p.Glu3002Gly
ENST00000544455.6:c.9005A>G	ENSP00000439902.1:p.Glu3002Gly
ENST00000614259.2:c.9013A>G	ENSP00000506251.1:n.9013A>G
ENST00000665585.1:c.1883A>G
ENST00000680887.1:c.9005A>G	ENSP00000505508.1:p.Glu3002Gly
ENST00000380152.7:c.9005A>G	ENSP00000369497.3:p.Glu3002Gly
ENST00000544455.5:c.9005A>G	ENSP00000439902.1:p.Glu3002Gly
NM_000059.3:c.9005A>G , LRG_293t1:c.9005A>G	NP_000050.2:p.Glu3002Gly
XM_011535203.1:c.9005A>G	XP_011533505.1:p.Glu3002Gly
XM_011535204.1:c.8909A>G	XP_011533506.1:p.Glu2970Gly
XM_011535205.1:c.*43A>G	XP_011533507.1:n.*43A>G
NM_000059.4:c.9005A>G MANE Select	NP_000050.3:p.Glu3002Gly