Canonical Allele Identifier: CA276890
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32399065C>G , CM000675.2:g.32399065C>G GRCh38
NC_000013.10:g.32973202C>G , CM000675.1:g.32973202C>G GRCh37
NC_000013.9:g.31871202C>G NCBI36
NG_012772.3:g.88586C>G , LRG_293:g.88586C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*1075C>G ENSP00000434898.2:n.*1075C>G
ENST00000530893.7:c.*295C>G ENSP00000499438.2:n.*295C>G
ENST00000380152.8:c.*295C>G MANE Select ENSP00000369497.3:n.*295C>G
ENST00000544455.6:c.*295C>G ENSP00000439902.1:n.*295C>G
ENST00000614259.2:c.10560C>G ENSP00000506251.1:n.10560C>G
ENST00000680887.1:c.*295C>G ENSP00000505508.1:n.*295C>G
ENST00000380152.7:c.*295C>G ENSP00000369497.3:n.*295C>G
ENST00000544455.5:c.*295C>G ENSP00000439902.1:n.*295C>G
NM_000059.3:c.*295C>G , LRG_293t1:c.*295C>G NP_000050.2:n.*295C>G
XM_011535203.1:c.*295C>G XP_011533505.1:n.*295C>G
XM_011535204.1:c.*295C>G XP_011533506.1:n.*295C>G
NM_000059.4:c.*295C>G MANE Select NP_000050.3:n.*295C>G