Canonical Allele Identifier: CA2270103129
Gene: SMARCD2 HGNC NCBI

Linked Data

dbSNP Id: rs2040205354

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832558del , CM000679.2:g.63832558del GRCh38
NC_000017.10:g.61909918del , CM000679.1:g.61909918del GRCh37
NC_000017.9:g.59263650del NCBI36
NG_053004.1:g.15434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000584483.6:n.2255del
ENST00000697953.1:n.2828del
ENST00000698013.1:n.2940del
ENST00000698014.1:n.3163del
ENST00000698015.1:n.2256del
ENST00000698016.1:c.*380del ENSP00000513502.1:n.*380del
ENST00000698017.1:n.2330del
ENST00000698018.1:n.2461del
ENST00000698019.1:n.2659del
ENST00000698020.1:n.1765del
ENST00000698021.1:c.1674del
ENST00000698022.1:c.*380del ENSP00000513504.1:n.*380del
ENST00000698023.1:n.2359del
ENST00000698024.1:n.2221del
ENST00000698025.1:n.2381del
ENST00000698026.1:n.1272del
ENST00000698027.1:c.*597del ENSP00000513505.1:n.*597del
ENST00000698028.1:n.2464del
ENST00000698029.1:n.3193del
ENST00000448276.7:c.*380del MANE Select ENSP00000392617.2:n.*380del
ENST00000323347.14:c.*380del ENSP00000318451.10:n.*380del
ENST00000448276.6:c.*380del ENSP00000392617.2:n.*380del
ENST00000613943.4:c.1865del ENSP00000483605.1:n.1865del
NM_001098426.1:c.*380del NP_001091896.1:n.*380del
XM_005257604.2:c.*380del XP_005257661.2:n.*380del
NM_001330439.1:c.*380del NP_001317368.1:n.*380del
NM_001330440.1:c.*380del NP_001317369.1:n.*380del
NM_001098426.2:c.*380del MANE Select NP_001091896.1:n.*380del
NM_001330440.2:c.*380del NP_001317369.1:n.*380del