Canonical Allele Identifier: CA348847
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 219426
dbSNP Id: rs864622082

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340609T>G , CM000675.2:g.32340609T>G GRCh38
NC_000013.10:g.32914746T>G , CM000675.1:g.32914746T>G GRCh37
NC_000013.9:g.31812746T>G NCBI36
NG_012772.3:g.30130T>G , LRG_293:g.30130T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.6254T>G ENSP00000434898.2:p.Leu2085Ter
ENST00000528762.2:c.6254T>G ENSP00000433168.2:p.Leu2085Ter
ENST00000530893.7:c.5885T>G ENSP00000499438.2:p.Leu1962Ter
ENST00000665585.2:c.6254T>G ENSP00000499570.2:p.Leu2085Ter
ENST00000666593.2:c.6254T>G ENSP00000499256.2:p.Leu2085Ter
ENST00000700202.2:c.6254T>G ENSP00000514856.2:p.Leu2085Ter
ENST00000380152.8:c.6254T>G MANE Select ENSP00000369497.3:p.Leu2085Ter
ENST00000544455.6:c.6254T>G ENSP00000439902.1:p.Leu2085Ter
ENST00000614259.2:c.6254T>G ENSP00000506251.1:p.Leu2085Ter
ENST00000680887.1:c.6254T>G ENSP00000505508.1:p.Leu2085Ter
ENST00000380152.7:c.6254T>G ENSP00000369497.3:p.Leu2085Ter
ENST00000544455.5:c.6254T>G ENSP00000439902.1:p.Leu2085Ter
ENST00000614259.1:n.6254T>G
NM_000059.3:c.6254T>G , LRG_293t1:c.6254T>G NP_000050.2:p.Leu2085Ter
XM_011535203.1:c.6254T>G XP_011533505.1:p.Leu2085Ter
XM_011535204.1:c.6254T>G XP_011533506.1:p.Leu2085Ter
XM_011535205.1:c.6254T>G XP_011533507.1:p.Leu2085Ter
NM_000059.4:c.6254T>G MANE Select NP_000050.3:p.Leu2085Ter