Canonical Allele Identifier: CA2727912857
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2072912134

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379972C>T , CM000675.2:g.32379972C>T GRCh38
NC_000013.10:g.32954109C>T , CM000675.1:g.32954109C>T GRCh37
NC_000013.9:g.31852109C>T NCBI36
NG_012772.3:g.69493C>T , LRG_293:g.69493C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9118-35C>T ENSP00000434898.2:n.9118-35C>T
ENST00000528762.2:c.*485-35C>T ENSP00000433168.2:n.*485-35C>T
ENST00000530893.7:c.8749-35C>T ENSP00000499438.2:n.8749-35C>T
ENST00000665585.2:c.*680-35C>T ENSP00000499570.2:n.*680-35C>T
ENST00000666593.2:c.9118-35C>T ENSP00000499256.2:n.9118-35C>T
ENST00000700202.2:c.9067-35C>T ENSP00000514856.2:n.9067-35C>T
ENST00000700202.1:c.1534-35C>T ENSP00000514856.1:n.1534-35C>T
ENST00000700203.1:n.1245-35C>T
ENST00000380152.8:c.9118-35C>T MANE Select ENSP00000369497.3:n.9118-35C>T
ENST00000544455.6:c.9118-35C>T ENSP00000439902.1:n.9118-35C>T
ENST00000614259.2:c.9126-35C>T ENSP00000506251.1:n.9126-35C>T
ENST00000665585.1:c.1996-35C>T
ENST00000680887.1:c.9118-35C>T ENSP00000505508.1:n.9118-35C>T
ENST00000380152.7:c.9118-35C>T ENSP00000369497.3:n.9118-35C>T
ENST00000470094.1:c.75-35C>T
ENST00000544455.5:c.9118-35C>T ENSP00000439902.1:n.9118-35C>T
NM_000059.3:c.9118-35C>T , LRG_293t1:c.9118-35C>T NP_000050.2:n.9118-35C>T
XM_011535203.1:c.9118-35C>T XP_011533505.1:n.9118-35C>T
XM_011535204.1:c.9022-35C>T XP_011533506.1:n.9022-35C>T
NM_000059.4:c.9118-35C>T MANE Select NP_000050.3:n.9118-35C>T