Canonical Allele Identifier: CA026189
Community Standard Title: NM_000059.4(BRCA2):c.9502-28A>G
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32396870A>G , CM000675.2:g.32396870A>G GRCh38
NC_000013.10:g.32971007A>G , CM000675.1:g.32971007A>G GRCh37
NC_000013.9:g.31869007A>G NCBI36
NG_012772.3:g.86391A>G , LRG_293:g.86391A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9502-28A>G MANE Select NP_000050.3:n.9502-28A>G
ENST00000380152.8:c.9502-28A>G MANE Select ENSP00000369497.3:n.9502-28A>G
NM_000059.3:c.9502-28A>G , LRG_293t1:c.9502-28A>G NP_000050.2:n.9502-28A>G
ENST00000380152.7:c.9502-28A>G ENSP00000369497.3:n.9502-28A>G
ENST00000470094.1:c.585-28A>G
ENST00000470094.2:c.*25-28A>G ENSP00000434898.2:n.*25-28A>G
ENST00000528762.2:c.*869-28A>G ENSP00000433168.2:n.*869-28A>G
ENST00000530893.7:c.9133-28A>G ENSP00000499438.2:n.9133-28A>G
ENST00000533776.1:n.62A>G
ENST00000544455.5:c.9502-28A>G ENSP00000439902.1:n.9502-28A>G
ENST00000544455.6:c.9502-28A>G ENSP00000439902.1:n.9502-28A>G
ENST00000614259.2:c.9510-28A>G ENSP00000506251.1:n.9510-28A>G
ENST00000665585.1:c.2380-28A>G
ENST00000665585.2:c.*1064-28A>G ENSP00000499570.2:n.*1064-28A>G
ENST00000680887.1:c.9502-28A>G ENSP00000505508.1:n.9502-28A>G
ENST00000700202.1:c.1918-28A>G ENSP00000514856.1:n.1918-28A>G
ENST00000700202.2:c.9451-28A>G ENSP00000514856.2:n.9451-28A>G
ENST00000700203.1:n.1629-28A>G
XM_011535203.1:c.9502-28A>G XP_011533505.1:n.9502-28A>G
XM_011535204.1:c.9406-28A>G XP_011533506.1:n.9406-28A>G