Canonical Allele Identifier: CA2082834122
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398198C= , CM000675.2:g.32398198C= GRCh38
NC_000013.10:g.32972335C= , CM000675.1:g.32972335C= GRCh37
NC_000013.9:g.31870335C= NCBI36
NG_012772.3:g.87719C= , LRG_293:g.87719C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*208C= ENSP00000434898.2:n.*208C=
ENST00000528762.2:c.*1052C= ENSP00000433168.2:n.*1052C=
ENST00000530893.7:c.9316C= ENSP00000499438.2:p.Pro3106=
ENST00000665585.2:c.*1247C= ENSP00000499570.2:n.*1247C=
ENST00000700202.2:c.9634C= ENSP00000514856.2:p.Pro3212=
ENST00000700202.1:c.2101C= ENSP00000514856.1:p.Pro701=
ENST00000700203.1:n.1812C=
ENST00000380152.8:c.9685C= MANE Select ENSP00000369497.3:p.Pro3229=
ENST00000544455.6:c.9685C= ENSP00000439902.1:p.Pro3229=
ENST00000614259.2:c.9693C= ENSP00000506251.1:n.9693C=
ENST00000665585.1:c.2563C=
ENST00000680887.1:c.9685C= ENSP00000505508.1:p.Pro3229=
ENST00000380152.7:c.9685C= ENSP00000369497.3:p.Pro3229=
ENST00000470094.1:c.768C=
ENST00000533776.1:n.273C=
ENST00000544455.5:c.9685C= ENSP00000439902.1:p.Pro3229=
NM_000059.3:c.9685C= , LRG_293t1:c.9685C= NP_000050.2:p.Pro3229=
XM_011535203.1:c.9685C= XP_011533505.1:p.Pro3229=
XM_011535204.1:c.9589C= XP_011533506.1:p.Pro3197=
NM_000059.4:c.9685C= MANE Select NP_000050.3:p.Pro3229=