Canonical Allele Identifier: CA483261974
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137620100
MyVariant Identifiers: chr13:g.32953582T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379445T>A , CM000675.2:g.32379445T>A GRCh38
NC_000013.10:g.32953582T>A , CM000675.1:g.32953582T>A GRCh37
NC_000013.9:g.31851582T>A NCBI36
NG_012772.3:g.68966T>A , LRG_293:g.68966T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8883T>A ENSP00000434898.2:p.Gly2961=
ENST00000528762.2:c.*250T>A ENSP00000433168.2:n.*250T>A
ENST00000530893.7:c.8514T>A ENSP00000499438.2:p.Gly2838=
ENST00000665585.2:c.*445T>A ENSP00000499570.2:n.*445T>A
ENST00000666593.2:c.8883T>A ENSP00000499256.2:p.Gly2961=
ENST00000700202.2:c.8883T>A ENSP00000514856.2:p.Gly2961=
ENST00000700202.1:c.1350T>A ENSP00000514856.1:p.Gly450=
ENST00000700203.1:n.1010T>A
ENST00000380152.8:c.8883T>A MANE Select ENSP00000369497.3:p.Gly2961=
ENST00000544455.6:c.8883T>A ENSP00000439902.1:p.Gly2961=
ENST00000614259.2:c.8891T>A ENSP00000506251.1:n.8891T>A
ENST00000665585.1:c.1761T>A
ENST00000680887.1:c.8883T>A ENSP00000505508.1:p.Gly2961=
ENST00000380152.7:c.8883T>A ENSP00000369497.3:p.Gly2961=
ENST00000528762.1:c.445T>A ENSP00000433168.1:n.445T>A
ENST00000544455.5:c.8883T>A ENSP00000439902.1:p.Gly2961=
NM_000059.3:c.8883T>A , LRG_293t1:c.8883T>A NP_000050.2:p.Gly2961=
XM_011535203.1:c.8883T>A XP_011533505.1:p.Gly2961=
XM_011535204.1:c.8787T>A XP_011533506.1:p.Gly2929=
XM_011535205.1:c.8755-305T>A XP_011533507.1:n.8755-305T>A
NM_000059.4:c.8883T>A MANE Select NP_000050.3:p.Gly2961=