Canonical Allele Identifier: CA2727483139
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1593879769

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315620T>A , CM000675.2:g.32315620T>A GRCh38
NC_000013.10:g.32889757T>A , CM000675.1:g.32889757T>A GRCh37
NC_000013.9:g.31787757T>A NCBI36
NG_012772.3:g.5141T>A , LRG_293:g.5141T>A
NG_017006.1:g.1335A>T
NG_017006.2:g.4744A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.-87T>A ENSP00000434898.2:n.-87T>A
ENST00000528762.2:c.-87T>A ENSP00000433168.2:n.-87T>A
ENST00000530893.7:c.-452T>A ENSP00000499438.2:n.-452T>A
ENST00000665585.2:c.-87T>A ENSP00000499570.2:n.-87T>A
ENST00000666593.2:c.-87T>A ENSP00000499256.2:n.-87T>A
ENST00000700202.2:c.-87T>A ENSP00000514856.2:n.-87T>A
ENST00000700199.1:n.38T>A
ENST00000700200.1:n.38T>A
ENST00000700201.1:c.-87T>A ENSP00000514855.1:n.-87T>A
ENST00000380152.8:c.-87T>A MANE Select ENSP00000369497.3:n.-87T>A
ENST00000544455.6:c.-40+475T>A ENSP00000439902.1:n.-40+475T>A
ENST00000380152.7:c.-87T>A ENSP00000369497.3:n.-87T>A
ENST00000530893.6:n.116T>A
ENST00000544455.5:c.-87T>A ENSP00000439902.1:n.-87T>A
NM_000059.3:c.-87T>A , LRG_293t1:c.-87T>A NP_000050.2:n.-87T>A
XM_011535203.1:c.-40+475T>A XP_011533505.1:n.-40+475T>A
XM_011535204.1:c.-87T>A XP_011533506.1:n.-87T>A
XM_011535205.1:c.-87T>A XP_011533507.1:n.-87T>A
NM_000059.4:c.-87T>A MANE Select NP_000050.3:n.-87T>A