Canonical Allele Identifier: CA387752847
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 481572
ClinVar RCV Id: RCV000568715
dbSNP Id: rs1555287775

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371053T>A , CM000675.2:g.32371053T>A GRCh38
NC_000013.10:g.32945190T>A , CM000675.1:g.32945190T>A GRCh37
NC_000013.9:g.31843190T>A NCBI36
NG_012772.3:g.60574T>A , LRG_293:g.60574T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8585T>A ENSP00000434898.2:p.Leu2862Gln
ENST00000528762.2:c.8585T>A ENSP00000433168.2:p.Leu2862Gln
ENST00000530893.7:c.8216T>A ENSP00000499438.2:p.Leu2739Gln
ENST00000665585.2:c.8585T>A ENSP00000499570.2:p.Leu2862Gln
ENST00000666593.2:c.8585T>A ENSP00000499256.2:p.Leu2862Gln
ENST00000700202.2:c.8585T>A ENSP00000514856.2:p.Leu2862Gln
ENST00000700202.1:c.1052T>A ENSP00000514856.1:p.Leu351Gln
ENST00000380152.8:c.8585T>A MANE Select ENSP00000369497.3:p.Leu2862Gln
ENST00000544455.6:c.8585T>A ENSP00000439902.1:p.Leu2862Gln
ENST00000614259.2:c.8593T>A ENSP00000506251.1:n.8593T>A
ENST00000665585.1:c.1150T>A
ENST00000680887.1:c.8585T>A ENSP00000505508.1:p.Leu2862Gln
ENST00000380152.7:c.8585T>A ENSP00000369497.3:p.Leu2862Gln
ENST00000528762.1:c.83T>A ENSP00000433168.1:p.Leu28Gln
ENST00000544455.5:c.8585T>A ENSP00000439902.1:p.Leu2862Gln
NM_000059.3:c.8585T>A , LRG_293t1:c.8585T>A NP_000050.2:p.Leu2862Gln
XM_011535203.1:c.8585T>A XP_011533505.1:p.Leu2862Gln
XM_011535204.1:c.8489T>A XP_011533506.1:p.Leu2830Gln
XM_011535205.1:c.8585T>A XP_011533507.1:p.Leu2862Gln
NM_000059.4:c.8585T>A MANE Select NP_000050.3:p.Leu2862Gln