Canonical Allele Identifier: CA2810124235
Gene: SMARCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837283_63837284del , CM000679.2:g.63837283_63837284del GRCh38
NC_000017.10:g.61914643_61914644del , CM000679.1:g.61914643_61914644del GRCh37
NC_000017.9:g.59268375_59268376del NCBI36
NG_053004.1:g.10708_10709del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.446_447del
ENST00000698015.1:n.36-47_36-46del
ENST00000698016.1:c.261-47_261-46del ENSP00000513502.1:n.261-47_261-46del
ENST00000698020.1:n.144_145del
ENST00000698021.1:c.65-47_65-46del
ENST00000698022.1:c.219-47_219-46del ENSP00000513504.1:n.219-47_219-46del
ENST00000698027.1:c.261-47_261-46del ENSP00000513505.1:n.261-47_261-46del
ENST00000448276.7:c.402-47_402-46del MANE Select ENSP00000392617.2:n.402-47_402-46del
ENST00000225742.13:c.177-47_177-46del ENSP00000225742.9:n.177-47_177-46del
ENST00000323347.14:c.258-47_258-46del ENSP00000318451.10:n.258-47_258-46del
ENST00000448276.6:c.402-47_402-46del ENSP00000392617.2:n.402-47_402-46del
ENST00000577686.1:n.53-47_53-46del
ENST00000580054.1:c.186-47_186-46del ENSP00000463793.1:n.186-47_186-46del
ENST00000584400.5:c.217-47_217-46del ENSP00000464503.1:n.217-47_217-46del
ENST00000613943.4:c.291-47_291-46del ENSP00000483605.1:n.291-47_291-46del
NM_001098426.1:c.402-47_402-46del NP_001091896.1:n.402-47_402-46del
XM_005257604.2:c.177-47_177-46del XP_005257661.2:n.177-47_177-46del
NM_001330439.1:c.177-47_177-46del NP_001317368.1:n.177-47_177-46del
NM_001330440.1:c.258-47_258-46del NP_001317369.1:n.258-47_258-46del
NM_001098426.2:c.402-47_402-46del MANE Select NP_001091896.1:n.402-47_402-46del
NM_001330440.2:c.258-47_258-46del NP_001317369.1:n.258-47_258-46del