Canonical Allele Identifier: CA387755779
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1334458965

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379329G>T , CM000675.2:g.32379329G>T GRCh38
NC_000013.10:g.32953466G>T , CM000675.1:g.32953466G>T GRCh37
NC_000013.9:g.31851466G>T NCBI36
NG_012772.3:g.68850G>T , LRG_293:g.68850G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8767G>T ENSP00000434898.2:p.Glu2923Ter
ENST00000528762.2:c.*134G>T ENSP00000433168.2:n.*134G>T
ENST00000530893.7:c.8398G>T ENSP00000499438.2:p.Glu2800Ter
ENST00000665585.2:c.*329G>T ENSP00000499570.2:n.*329G>T
ENST00000666593.2:c.8767G>T ENSP00000499256.2:p.Glu2923Ter
ENST00000700202.2:c.8767G>T ENSP00000514856.2:p.Glu2923Ter
ENST00000700202.1:c.1234G>T ENSP00000514856.1:p.Glu412Ter
ENST00000700203.1:n.894G>T
ENST00000380152.8:c.8767G>T MANE Select ENSP00000369497.3:p.Glu2923Ter
ENST00000544455.6:c.8767G>T ENSP00000439902.1:p.Glu2923Ter
ENST00000614259.2:c.8775G>T ENSP00000506251.1:n.8775G>T
ENST00000665585.1:c.1645G>T
ENST00000680887.1:c.8767G>T ENSP00000505508.1:p.Glu2923Ter
ENST00000380152.7:c.8767G>T ENSP00000369497.3:p.Glu2923Ter
ENST00000528762.1:c.329G>T ENSP00000433168.1:n.329G>T
ENST00000544455.5:c.8767G>T ENSP00000439902.1:p.Glu2923Ter
NM_000059.3:c.8767G>T , LRG_293t1:c.8767G>T NP_000050.2:p.Glu2923Ter
XM_011535203.1:c.8767G>T XP_011533505.1:p.Glu2923Ter
XM_011535204.1:c.8671G>T XP_011533506.1:p.Glu2891Ter
XM_011535205.1:c.8755-421G>T XP_011533507.1:n.8755-421G>T
NM_000059.4:c.8767G>T MANE Select NP_000050.3:p.Glu2923Ter