Canonical Allele Identifier: CA483274544
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137462274
MyVariant Identifiers: chr13:g.32905157T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32331020T>A , CM000675.2:g.32331020T>A GRCh38
NC_000013.10:g.32905157T>A , CM000675.1:g.32905157T>A GRCh37
NC_000013.9:g.31803157T>A NCBI36
NG_012772.3:g.20541T>A , LRG_293:g.20541T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.783T>A ENSP00000434898.2:p.Ala261=
ENST00000528762.2:c.783T>A ENSP00000433168.2:p.Ala261=
ENST00000530893.7:c.414T>A ENSP00000499438.2:p.Ala138=
ENST00000665585.2:c.783T>A ENSP00000499570.2:p.Ala261=
ENST00000666593.2:c.783T>A ENSP00000499256.2:p.Ala261=
ENST00000700202.2:c.783T>A ENSP00000514856.2:p.Ala261=
ENST00000700201.1:c.*562T>A ENSP00000514855.1:n.*562T>A
ENST00000380152.8:c.783T>A MANE Select ENSP00000369497.3:p.Ala261=
ENST00000544455.6:c.783T>A ENSP00000439902.1:p.Ala261=
ENST00000614259.2:c.783T>A ENSP00000506251.1:p.Ala261=
ENST00000680887.1:c.783T>A ENSP00000505508.1:p.Ala261=
ENST00000380152.7:c.783T>A ENSP00000369497.3:p.Ala261=
ENST00000530893.6:n.981T>A
ENST00000544455.5:c.783T>A ENSP00000439902.1:p.Ala261=
ENST00000614259.1:n.783T>A
NM_000059.3:c.783T>A , LRG_293t1:c.783T>A NP_000050.2:p.Ala261=
XM_011535203.1:c.783T>A XP_011533505.1:p.Ala261=
XM_011535204.1:c.783T>A XP_011533506.1:p.Ala261=
XM_011535205.1:c.783T>A XP_011533507.1:p.Ala261=
NM_000059.4:c.783T>A MANE Select NP_000050.3:p.Ala261=