Canonical Allele Identifier: CA483436025
Gene: BRCA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.32893438T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319301T>C , CM000675.2:g.32319301T>C GRCh38
NC_000013.10:g.32893438T>C , CM000675.1:g.32893438T>C GRCh37
NC_000013.9:g.31791438T>C NCBI36
NG_012772.3:g.8822T>C , LRG_293:g.8822T>C
NG_017006.2:g.1063A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.292T>C ENSP00000434898.2:p.Leu98=
ENST00000528762.2:c.292T>C ENSP00000433168.2:p.Leu98=
ENST00000530893.7:c.-78T>C ENSP00000499438.2:n.-78T>C
ENST00000665585.2:c.292T>C ENSP00000499570.2:p.Leu98=
ENST00000666593.2:c.292T>C ENSP00000499256.2:p.Leu98=
ENST00000700202.2:c.292T>C ENSP00000514856.2:p.Leu98=
ENST00000700200.1:n.191+2774T>C
ENST00000700201.1:c.292T>C ENSP00000514855.1:p.Leu98=
ENST00000380152.8:c.292T>C MANE Select ENSP00000369497.3:p.Leu98=
ENST00000544455.6:c.292T>C ENSP00000439902.1:p.Leu98=
ENST00000614259.2:c.292T>C ENSP00000506251.1:p.Leu98=
ENST00000680887.1:c.292T>C ENSP00000505508.1:p.Leu98=
ENST00000380152.7:c.292T>C ENSP00000369497.3:p.Leu98=
ENST00000530893.6:n.490T>C
ENST00000544455.5:c.292T>C ENSP00000439902.1:p.Leu98=
ENST00000614259.1:n.292T>C
NM_000059.3:c.292T>C , LRG_293t1:c.292T>C NP_000050.2:p.Leu98=
XM_011535203.1:c.292T>C XP_011533505.1:p.Leu98=
XM_011535204.1:c.292T>C XP_011533506.1:p.Leu98=
XM_011535205.1:c.292T>C XP_011533507.1:p.Leu98=
NM_000059.4:c.292T>C MANE Select NP_000050.3:p.Leu98=