Canonical Allele Identifier: CA387763333
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137659202

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32396965A>T , CM000675.2:g.32396965A>T GRCh38
NC_000013.10:g.32971102A>T , CM000675.1:g.32971102A>T GRCh37
NC_000013.9:g.31869102A>T NCBI36
NG_012772.3:g.86486A>T , LRG_293:g.86486A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*92A>T ENSP00000434898.2:n.*92A>T
ENST00000528762.2:c.*936A>T ENSP00000433168.2:n.*936A>T
ENST00000530893.7:c.9200A>T ENSP00000499438.2:p.Lys3067Met
ENST00000665585.2:c.*1131A>T ENSP00000499570.2:n.*1131A>T
ENST00000700202.2:c.9518A>T ENSP00000514856.2:p.Lys3173Met
ENST00000700202.1:c.1985A>T ENSP00000514856.1:p.Lys662Met
ENST00000700203.1:n.1696A>T
ENST00000380152.8:c.9569A>T MANE Select ENSP00000369497.3:p.Lys3190Met
ENST00000544455.6:c.9569A>T ENSP00000439902.1:p.Lys3190Met
ENST00000614259.2:c.9577A>T ENSP00000506251.1:n.9577A>T
ENST00000665585.1:c.2447A>T
ENST00000680887.1:c.9569A>T ENSP00000505508.1:p.Lys3190Met
ENST00000380152.7:c.9569A>T ENSP00000369497.3:p.Lys3190Met
ENST00000470094.1:c.652A>T
ENST00000533776.1:n.157A>T
ENST00000544455.5:c.9569A>T ENSP00000439902.1:p.Lys3190Met
NM_000059.3:c.9569A>T , LRG_293t1:c.9569A>T NP_000050.2:p.Lys3190Met
XM_011535203.1:c.9569A>T XP_011533505.1:p.Lys3190Met
XM_011535204.1:c.9473A>T XP_011533506.1:p.Lys3158Met
NM_000059.4:c.9569A>T MANE Select NP_000050.3:p.Lys3190Met