Canonical Allele Identifier: CA012889
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 37751
dbSNP Id: rs80358454

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319176A>C , CM000675.2:g.32319176A>C GRCh38
NC_000013.10:g.32893313A>C , CM000675.1:g.32893313A>C GRCh37
NC_000013.9:g.31791313A>C NCBI36
NG_012772.3:g.8697A>C , LRG_293:g.8697A>C
NG_017006.2:g.1188T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380152.8:c.167A>C MANE Select ENSP00000369497.3:p.Asn56Thr
ENST00000544455.6:c.167A>C ENSP00000439902.1:p.Asn56Thr
ENST00000614259.2:n.167A>C ENSP00000506251.1:p.Asn56Thr
ENST00000680887.1:c.167A>C ENSP00000505508.1:p.Asn56Thr
ENST00000380152.7:c.167A>C ENSP00000369497.3:p.Asn56Thr
ENST00000530893.6:n.365A>C
ENST00000544455.5:c.167A>C ENSP00000439902.1:p.Asn56Thr
ENST00000614259.1:n.167A>C
NM_000059.3:c.167A>C , LRG_293t1:c.167A>C NP_000050.2:p.Asn56Thr
XM_011535203.1:c.167A>C XP_011533505.1:p.Asn56Thr
XM_011535204.1:c.167A>C XP_011533506.1:p.Asn56Thr
XM_011535205.1:c.167A>C XP_011533507.1:p.Asn56Thr
NM_000059.4:c.167A>C MANE Select NP_000050.3:p.Asn56Thr