Canonical Allele Identifier: CA2573149345
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1611546
ClinVar RCV Id: RCV002157877
dbSNP Id: rs2137576250

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362509_32362510delinsCG , CM000675.2:g.32362509_32362510delinsCG GRCh38
NC_000013.10:g.32936646_32936647delinsCG , CM000675.1:g.32936646_32936647delinsCG GRCh37
NC_000013.9:g.31834646_31834647delinsCG NCBI36
NG_012772.3:g.52030_52031delinsCG , LRG_293:g.52030_52031delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7806-14_7806-13delinsCG ENSP00000434898.2:n.7806-14_7806-13delinsCG
ENST00000528762.2:c.7806-14_7806-13delinsCG ENSP00000433168.2:n.7806-14_7806-13delinsCG
ENST00000530893.7:c.7437-14_7437-13delinsCG ENSP00000499438.2:n.7437-14_7437-13delinsCG
ENST00000665585.2:c.7806-14_7806-13delinsCG ENSP00000499570.2:n.7806-14_7806-13delinsCG
ENST00000666593.2:c.7806-14_7806-13delinsCG ENSP00000499256.2:n.7806-14_7806-13delinsCG
ENST00000700202.2:c.7806-14_7806-13delinsCG ENSP00000514856.2:n.7806-14_7806-13delinsCG
ENST00000700202.1:c.273-14_273-13delinsCG ENSP00000514856.1:n.273-14_273-13delinsCG
ENST00000380152.8:c.7806-14_7806-13delinsCG MANE Select ENSP00000369497.3:n.7806-14_7806-13delinsCG
ENST00000544455.6:c.7806-14_7806-13delinsCG ENSP00000439902.1:n.7806-14_7806-13delinsCG
ENST00000614259.2:c.7806-6_7806-5delinsCG ENSP00000506251.1:n.7806-6_7806-5delinsCG
ENST00000665585.1:c.371-14_371-13delinsCG
ENST00000680887.1:c.7806-14_7806-13delinsCG ENSP00000505508.1:n.7806-14_7806-13delinsCG
ENST00000380152.7:c.7806-14_7806-13delinsCG ENSP00000369497.3:n.7806-14_7806-13delinsCG
ENST00000544455.5:c.7806-14_7806-13delinsCG ENSP00000439902.1:n.7806-14_7806-13delinsCG
ENST00000614259.1:n.7806-6_7806-5delinsCG
NM_000059.3:c.7806-14_7806-13delinsCG , LRG_293t1:c.7806-14_7806-13delinsCG NP_000050.2:n.7806-14_7806-13delinsCG
XM_011535203.1:c.7806-14_7806-13delinsCG XP_011533505.1:n.7806-14_7806-13delinsCG
XM_011535204.1:c.7710-14_7710-13delinsCG XP_011533506.1:n.7710-14_7710-13delinsCG
XM_011535205.1:c.7806-14_7806-13delinsCG XP_011533507.1:n.7806-14_7806-13delinsCG
NM_000059.4:c.7806-14_7806-13delinsCG MANE Select NP_000050.3:n.7806-14_7806-13delinsCG