Canonical Allele Identifier: CA2270103404
Gene: SMARCD2 HGNC NCBI

Linked Data

dbSNP Id: rs2040202654

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832368_63832370del , CM000679.2:g.63832368_63832370del GRCh38
NC_000017.10:g.61909728_61909730del , CM000679.1:g.61909728_61909730del GRCh37
NC_000017.9:g.59263460_59263462del NCBI36
NG_053004.1:g.15625_15627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000584483.6:n.2446_2448del
ENST00000697953.1:n.3019_3021del
ENST00000698013.1:n.3131_3133del
ENST00000698014.1:n.3354_3356del
ENST00000698015.1:n.2447_2449del
ENST00000698016.1:c.*571_*573del ENSP00000513502.1:n.*571_*573del
ENST00000698017.1:n.2521_2523del
ENST00000698018.1:n.2652_2654del
ENST00000698019.1:n.2850_2852del
ENST00000698020.1:n.1956_1958del
ENST00000698021.1:c.1865_1867del
ENST00000698022.1:c.*571_*573del ENSP00000513504.1:n.*571_*573del
ENST00000698023.1:n.2550_2552del
ENST00000698024.1:n.2412_2414del
ENST00000698025.1:n.2572_2574del
ENST00000698026.1:n.1463_1465del
ENST00000698027.1:c.*788_*790del ENSP00000513505.1:n.*788_*790del
ENST00000698028.1:n.2655_2657del
ENST00000698029.1:n.3384_3386del
ENST00000448276.7:c.*571_*573del MANE Select ENSP00000392617.2:n.*571_*573del
ENST00000448276.6:c.*571_*573del ENSP00000392617.2:n.*571_*573del
ENST00000613943.4:c.2056_2058del ENSP00000483605.1:n.2056_2058del
NM_001098426.1:c.*571_*573del NP_001091896.1:n.*571_*573del
XM_005257604.2:c.*571_*573del XP_005257661.2:n.*571_*573del
NM_001330439.1:c.*571_*573del NP_001317368.1:n.*571_*573del
NM_001330440.1:c.*571_*573del NP_001317369.1:n.*571_*573del
NM_001098426.2:c.*571_*573del MANE Select NP_001091896.1:n.*571_*573del
NM_001330440.2:c.*571_*573del NP_001317369.1:n.*571_*573del