Canonical Allele Identifier: CA387766435
Gene: BRCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398357C>T , CM000675.2:g.32398357C>T GRCh38
NC_000013.10:g.32972494C>T , CM000675.1:g.32972494C>T GRCh37
NC_000013.9:g.31870494C>T NCBI36
NG_012772.3:g.87878C>T , LRG_293:g.87878C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*367C>T ENSP00000434898.2:n.*367C>T
ENST00000528762.2:c.*1211C>T ENSP00000433168.2:n.*1211C>T
ENST00000530893.7:c.9475C>T ENSP00000499438.2:p.Pro3159Ser
ENST00000665585.2:c.*1406C>T ENSP00000499570.2:n.*1406C>T
ENST00000700202.2:c.9793C>T ENSP00000514856.2:p.Pro3265Ser
ENST00000700202.1:c.2260C>T ENSP00000514856.1:p.Pro754Ser
ENST00000700203.1:n.1971C>T
ENST00000380152.8:c.9844C>T MANE Select ENSP00000369497.3:p.Pro3282Ser
ENST00000544455.6:c.9844C>T ENSP00000439902.1:p.Pro3282Ser
ENST00000614259.2:c.9852C>T ENSP00000506251.1:n.9852C>T
ENST00000680887.1:c.9844C>T ENSP00000505508.1:p.Pro3282Ser
ENST00000380152.7:c.9844C>T ENSP00000369497.3:p.Pro3282Ser
ENST00000533776.1:n.432C>T
ENST00000544455.5:c.9844C>T ENSP00000439902.1:p.Pro3282Ser
NM_000059.3:c.9844C>T , LRG_293t1:c.9844C>T NP_000050.2:p.Pro3282Ser
XM_011535203.1:c.9844C>T XP_011533505.1:p.Pro3282Ser
XM_011535204.1:c.9748C>T XP_011533506.1:p.Pro3250Ser
NM_000059.4:c.9844C>T MANE Select NP_000050.3:p.Pro3282Ser