Canonical Allele Identifier: CA2270103361
Gene: SMARCD2 HGNC NCBI

Linked Data

dbSNP Id: rs2040201912

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832332del , CM000679.2:g.63832332del GRCh38
NC_000017.10:g.61909692del , CM000679.1:g.61909692del GRCh37
NC_000017.9:g.59263424del NCBI36
NG_053004.1:g.15660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000584483.6:n.2481del
ENST00000697953.1:n.3054del
ENST00000698013.1:n.3166del
ENST00000698014.1:n.3389del
ENST00000698015.1:n.2482del
ENST00000698016.1:c.*606del ENSP00000513502.1:n.*606del
ENST00000698017.1:n.2556del
ENST00000698018.1:n.2687del
ENST00000698019.1:n.2885del
ENST00000698020.1:n.1991del
ENST00000698021.1:c.1900del
ENST00000698022.1:c.*606del ENSP00000513504.1:n.*606del
ENST00000698023.1:n.2585del
ENST00000698024.1:n.2447del
ENST00000698025.1:n.2607del
ENST00000698026.1:n.1498del
ENST00000698027.1:c.*823del ENSP00000513505.1:n.*823del
ENST00000698028.1:n.2690del
ENST00000698029.1:n.3419del
ENST00000448276.7:c.*606del MANE Select ENSP00000392617.2:n.*606del
ENST00000448276.6:c.*606del ENSP00000392617.2:n.*606del
ENST00000613943.4:c.2091del ENSP00000483605.1:n.2091del
NM_001098426.1:c.*606del NP_001091896.1:n.*606del
XM_005257604.2:c.*606del XP_005257661.2:n.*606del
NM_001330439.1:c.*606del NP_001317368.1:n.*606del
NM_001330440.1:c.*606del NP_001317369.1:n.*606del
NM_001098426.2:c.*606del MANE Select NP_001091896.1:n.*606del
NM_001330440.2:c.*606del NP_001317369.1:n.*606del