Canonical Allele Identifier: CA2580087481
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2036093
ClinVar RCV Id: RCV002894704

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379736_32379737dup , CM000675.2:g.32379736_32379737dup GRCh38
NC_000013.10:g.32953873_32953874dup , CM000675.1:g.32953873_32953874dup GRCh37
NC_000013.9:g.31851873_31851874dup NCBI36
NG_012772.3:g.69257_69258dup , LRG_293:g.69257_69258dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8954-14_8954-13dup ENSP00000434898.2:n.8954-14_8954-13dup
ENST00000528762.2:c.*321-14_*321-13dup ENSP00000433168.2:n.*321-14_*321-13dup
ENST00000530893.7:c.8585-14_8585-13dup ENSP00000499438.2:n.8585-14_8585-13dup
ENST00000665585.2:c.*516-14_*516-13dup ENSP00000499570.2:n.*516-14_*516-13dup
ENST00000666593.2:c.8954-14_8954-13dup ENSP00000499256.2:n.8954-14_8954-13dup
ENST00000700202.2:c.8954-65_8954-64dup ENSP00000514856.2:n.8954-65_8954-64dup
ENST00000700202.1:c.1421-65_1421-64dup ENSP00000514856.1:n.1421-65_1421-64dup
ENST00000700203.1:n.1081-14_1081-13dup
ENST00000380152.8:c.8954-14_8954-13dup MANE Select ENSP00000369497.3:n.8954-14_8954-13dup
ENST00000544455.6:c.8954-14_8954-13dup ENSP00000439902.1:n.8954-14_8954-13dup
ENST00000614259.2:c.8962-14_8962-13dup ENSP00000506251.1:n.8962-14_8962-13dup
ENST00000665585.1:c.1832-14_1832-13dup
ENST00000680887.1:c.8954-14_8954-13dup ENSP00000505508.1:n.8954-14_8954-13dup
ENST00000380152.7:c.8954-14_8954-13dup ENSP00000369497.3:n.8954-14_8954-13dup
ENST00000544455.5:c.8954-14_8954-13dup ENSP00000439902.1:n.8954-14_8954-13dup
NM_000059.3:c.8954-14_8954-13dup , LRG_293t1:c.8954-14_8954-13dup NP_000050.2:n.8954-14_8954-13dup
XM_011535203.1:c.8954-14_8954-13dup XP_011533505.1:n.8954-14_8954-13dup
XM_011535204.1:c.8858-14_8858-13dup XP_011533506.1:n.8858-14_8858-13dup
XM_011535205.1:c.8755-14_8755-13dup XP_011533507.1:n.8755-14_8755-13dup
NM_000059.4:c.8954-14_8954-13dup MANE Select NP_000050.3:n.8954-14_8954-13dup