Canonical Allele Identifier: CA387754061

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 481566
• ClinVar RCV Id: RCV000562416 ; RCV000637691
• dbSNP Id: rs1555280333
• gnomAD v4: 13-32319090-A-G
• MyVariant Identifiers: chr13:g.32893227A>G (hg19) ; chr13:g.32319090A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319090A>G , CM000675.2:g.32319090A>G	GRCh38
NC_000013.10:g.32893227A>G , CM000675.1:g.32893227A>G	GRCh37
NC_000013.9:g.31791227A>G	NCBI36
NG_012772.3:g.8611A>G , LRG_293:g.8611A>G
NG_017006.2:g.1274T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.81A>G	ENSP00000434898.2:p.Ile27Met
ENST00000528762.2:c.81A>G	ENSP00000433168.2:p.Ile27Met
ENST00000530893.7:c.-289A>G	ENSP00000499438.2:n.-289A>G
ENST00000665585.2:c.81A>G	ENSP00000499570.2:p.Ile27Met
ENST00000666593.2:c.81A>G	ENSP00000499256.2:p.Ile27Met
ENST00000700202.2:c.81A>G	ENSP00000514856.2:p.Ile27Met
ENST00000700200.1:n.191+2563A>G
ENST00000700201.1:c.81A>G	ENSP00000514855.1:p.Ile27Met
ENST00000380152.8:c.81A>G MANE Select	ENSP00000369497.3:p.Ile27Met
ENST00000544455.6:c.81A>G	ENSP00000439902.1:p.Ile27Met
ENST00000614259.2:c.81A>G	ENSP00000506251.1:p.Ile27Met
ENST00000680887.1:c.81A>G	ENSP00000505508.1:p.Ile27Met
ENST00000380152.7:c.81A>G	ENSP00000369497.3:p.Ile27Met
ENST00000530893.6:n.279A>G
ENST00000544455.5:c.81A>G	ENSP00000439902.1:p.Ile27Met
ENST00000614259.1:n.81A>G
NM_000059.3:c.81A>G , LRG_293t1:c.81A>G	NP_000050.2:p.Ile27Met
XM_011535203.1:c.81A>G	XP_011533505.1:p.Ile27Met
XM_011535204.1:c.81A>G	XP_011533506.1:p.Ile27Met
XM_011535205.1:c.81A>G	XP_011533507.1:p.Ile27Met
NM_000059.4:c.81A>G MANE Select	NP_000050.3:p.Ile27Met