Canonical Allele Identifier: CA387755874
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2894458
ClinVar RCV Id: RCV003644788

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379347T>G , CM000675.2:g.32379347T>G GRCh38
NC_000013.10:g.32953484T>G , CM000675.1:g.32953484T>G GRCh37
NC_000013.9:g.31851484T>G NCBI36
NG_012772.3:g.68868T>G , LRG_293:g.68868T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8785T>G ENSP00000434898.2:p.Leu2929Val
ENST00000528762.2:c.*152T>G ENSP00000433168.2:n.*152T>G
ENST00000530893.7:c.8416T>G ENSP00000499438.2:p.Leu2806Val
ENST00000665585.2:c.*347T>G ENSP00000499570.2:n.*347T>G
ENST00000666593.2:c.8785T>G ENSP00000499256.2:p.Leu2929Val
ENST00000700202.2:c.8785T>G ENSP00000514856.2:p.Leu2929Val
ENST00000700202.1:c.1252T>G ENSP00000514856.1:p.Leu418Val
ENST00000700203.1:n.912T>G
ENST00000380152.8:c.8785T>G MANE Select ENSP00000369497.3:p.Leu2929Val
ENST00000544455.6:c.8785T>G ENSP00000439902.1:p.Leu2929Val
ENST00000614259.2:c.8793T>G ENSP00000506251.1:n.8793T>G
ENST00000665585.1:c.1663T>G
ENST00000680887.1:c.8785T>G ENSP00000505508.1:p.Leu2929Val
ENST00000380152.7:c.8785T>G ENSP00000369497.3:p.Leu2929Val
ENST00000528762.1:c.347T>G ENSP00000433168.1:n.347T>G
ENST00000544455.5:c.8785T>G ENSP00000439902.1:p.Leu2929Val
NM_000059.3:c.8785T>G , LRG_293t1:c.8785T>G NP_000050.2:p.Leu2929Val
XM_011535203.1:c.8785T>G XP_011533505.1:p.Leu2929Val
XM_011535204.1:c.8689T>G XP_011533506.1:p.Leu2897Val
XM_011535205.1:c.8755-403T>G XP_011533507.1:n.8755-403T>G
NM_000059.4:c.8785T>G MANE Select NP_000050.3:p.Leu2929Val