Canonical Allele Identifier: CA913188573
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 923210
ClinVar RCV Id: RCV001183712
dbSNP Id: rs2072425421

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32333396_32333398delinsTTT , CM000675.2:g.32333396_32333398delinsTTT GRCh38
NC_000013.10:g.32907533_32907535delinsTTT , CM000675.1:g.32907533_32907535delinsTTT GRCh37
NC_000013.9:g.31805533_31805535delinsTTT NCBI36
NG_012772.3:g.22917_22919delinsTTT , LRG_293:g.22917_22919delinsTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.1909+9_1909+11delinsTTT ENSP00000434898.2:n.1909+9_1909+11delinsTTT
ENST00000528762.2:c.1909+9_1909+11delinsTTT ENSP00000433168.2:n.1909+9_1909+11delinsTTT
ENST00000530893.7:c.1540+9_1540+11delinsTTT ENSP00000499438.2:n.1540+9_1540+11delinsTTT
ENST00000665585.2:c.1909+9_1909+11delinsTTT ENSP00000499570.2:n.1909+9_1909+11delinsTTT
ENST00000666593.2:c.1909+9_1909+11delinsTTT ENSP00000499256.2:n.1909+9_1909+11delinsTTT
ENST00000700202.2:c.1909+9_1909+11delinsTTT ENSP00000514856.2:n.1909+9_1909+11delinsTTT
ENST00000380152.8:c.1909+9_1909+11delinsTTT MANE Select ENSP00000369497.3:n.1909+9_1909+11delinsTTT
ENST00000544455.6:c.1909+9_1909+11delinsTTT ENSP00000439902.1:n.1909+9_1909+11delinsTTT
ENST00000614259.2:c.1909+9_1909+11delinsTTT ENSP00000506251.1:n.1909+9_1909+11delinsTTT
ENST00000680887.1:c.1909+9_1909+11delinsTTT ENSP00000505508.1:n.1909+9_1909+11delinsTTT
ENST00000380152.7:c.1909+9_1909+11delinsTTT ENSP00000369497.3:n.1909+9_1909+11delinsTTT
ENST00000544455.5:c.1909+9_1909+11delinsTTT ENSP00000439902.1:n.1909+9_1909+11delinsTTT
ENST00000614259.1:n.1909+9_1909+11delinsTTT
NM_000059.3:c.1909+9_1909+11delinsTTT , LRG_293t1:c.1909+9_1909+11delinsTTT NP_000050.2:n.1909+9_1909+11delinsTTT
XM_011535203.1:c.1909+9_1909+11delinsTTT XP_011533505.1:n.1909+9_1909+11delinsTTT
XM_011535204.1:c.1909+9_1909+11delinsTTT XP_011533506.1:n.1909+9_1909+11delinsTTT
XM_011535205.1:c.1909+9_1909+11delinsTTT XP_011533507.1:n.1909+9_1909+11delinsTTT
NM_000059.4:c.1909+9_1909+11delinsTTT MANE Select NP_000050.3:n.1909+9_1909+11delinsTTT