Canonical Allele Identifier: CA2270103125
Gene: SMARCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832555_63832558delinsACCT , CM000679.2:g.63832555_63832558delinsACCT GRCh38
NC_000017.10:g.61909915_61909918delinsACCT , CM000679.1:g.61909915_61909918delinsACCT GRCh37
NC_000017.9:g.59263647_59263650delinsACCT NCBI36
NG_053004.1:g.15434_15437delinsAGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000584483.6:n.2255_2258delinsAGGT
ENST00000697953.1:n.2828_2831delinsAGGT
ENST00000698013.1:n.2940_2943delinsAGGT
ENST00000698014.1:n.3163_3166delinsAGGT
ENST00000698015.1:n.2256_2259delinsAGGT
ENST00000698016.1:c.*380_*383delinsAGGT ENSP00000513502.1:n.*380_*383delinsAGGT
ENST00000698017.1:n.2330_2333delinsAGGT
ENST00000698018.1:n.2461_2464delinsAGGT
ENST00000698019.1:n.2659_2662delinsAGGT
ENST00000698020.1:n.1765_1768delinsAGGT
ENST00000698021.1:c.1674_1677delinsAGGT
ENST00000698022.1:c.*380_*383delinsAGGT ENSP00000513504.1:n.*380_*383delinsAGGT
ENST00000698023.1:n.2359_2362delinsAGGT
ENST00000698024.1:n.2221_2224delinsAGGT
ENST00000698025.1:n.2381_2384delinsAGGT
ENST00000698026.1:n.1272_1275delinsAGGT
ENST00000698027.1:c.*597_*600delinsAGGT ENSP00000513505.1:n.*597_*600delinsAGGT
ENST00000698028.1:n.2464_2467delinsAGGT
ENST00000698029.1:n.3193_3196delinsAGGT
ENST00000448276.7:c.*380_*383delinsAGGT MANE Select ENSP00000392617.2:n.*380_*383delinsAGGT
ENST00000323347.14:c.*380_*383delinsAGGT ENSP00000318451.10:n.*380_*383delinsAGGT
ENST00000448276.6:c.*380_*383delinsAGGT ENSP00000392617.2:n.*380_*383delinsAGGT
ENST00000613943.4:c.1865_1868delinsAGGT ENSP00000483605.1:n.1865_1868delinsAGGT
NM_001098426.1:c.*380_*383delinsAGGT NP_001091896.1:n.*380_*383delinsAGGT
XM_005257604.2:c.*380_*383delinsAGGT XP_005257661.2:n.*380_*383delinsAGGT
NM_001330439.1:c.*380_*383delinsAGGT NP_001317368.1:n.*380_*383delinsAGGT
NM_001330440.1:c.*380_*383delinsAGGT NP_001317369.1:n.*380_*383delinsAGGT
NM_001098426.2:c.*380_*383delinsAGGT MANE Select NP_001091896.1:n.*380_*383delinsAGGT
NM_001330440.2:c.*380_*383delinsAGGT NP_001317369.1:n.*380_*383delinsAGGT