Canonical Allele Identifier: CA773998089
Gene: SMARCD2 HGNC NCBI

Linked Data

dbSNP Id: rs1057518732

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837200_63837201insGAAGATGGCAGATAAGGTTCTACCT , CM000679.2:g.63837200_63837201insGAAGATGGCAGATAAGGTTCTACCT GRCh38
NC_000017.10:g.61914560_61914561insGAAGATGGCAGATAAGGTTCTACCT , CM000679.1:g.61914560_61914561insGAAGATGGCAGATAAGGTTCTACCT GRCh37
NC_000017.9:g.59268292_59268293insGAAGATGGCAGATAAGGTTCTACCT NCBI36
NG_053004.1:g.10791_10792insAGGTAGAACCTTATCTGCCATCTTC

Transcript Alleles

HGVS Amino-acid change
ENST00000697953.1:n.529_530insAGGTAGAACCTTATCTGCCATCTTC
ENST00000698015.1:n.72_73insAGGTAGAACCTTATCTGCCATCTTC
ENST00000698016.1:c.297_298insAGGTAGAACCTTATCTGCCATCTTC ENSP00000513502.1:p.Gln100ArgfsTer2
ENST00000698020.1:n.227_228insAGGTAGAACCTTATCTGCCATCTTC
ENST00000698021.1:c.101_102insAGGTAGAACCTTATCTGCCATCTTC
ENST00000698022.1:c.255_256insAGGTAGAACCTTATCTGCCATCTTC ENSP00000513504.1:p.Gln86ArgfsTer2
ENST00000698027.1:c.297_298insAGGTAGAACCTTATCTGCCATCTTC ENSP00000513505.1:p.Gln100ArgfsTer2
ENST00000448276.7:c.438_439insAGGTAGAACCTTATCTGCCATCTTC MANE Select ENSP00000392617.2:p.Gln147ArgfsTer2
ENST00000225742.13:c.213_214insAGGTAGAACCTTATCTGCCATCTTC ENSP00000225742.9:p.Gln72ArgfsTer2
ENST00000323347.14:c.294_295insAGGTAGAACCTTATCTGCCATCTTC ENSP00000318451.10:p.Gln99ArgfsTer2
ENST00000448276.6:c.438_439insAGGTAGAACCTTATCTGCCATCTTC ENSP00000392617.2:p.Gln147ArgfsTer2
ENST00000577686.1:n.89_90insAGGTAGAACCTTATCTGCCATCTTC
ENST00000580054.1:c.222_223insAGGTAGAACCTTATCTGCCATCTTC ENSP00000463793.1:p.Gln75ArgfsTer2
ENST00000584400.5:c.*10_*11insAGGTAGAACCTTATCTGCCATCTTC ENSP00000464503.1:n.*10_*11insAGGTAGAACCT...
ENST00000613943.4:c.327_328insAGGTAGAACCTTATCTGCCATCTTC ENSP00000483605.1:p.Gln110ArgfsTer2
NM_001098426.1:c.438_439insAGGTAGAACCTTATCTGCCATCTTC NP_001091896.1:p.Gln147ArgfsTer2
XM_005257604.2:c.213_214insAGGTAGAACCTTATCTGCCATCTTC XP_005257661.2:p.Gln72ArgfsTer2
NM_001330439.1:c.213_214insAGGTAGAACCTTATCTGCCATCTTC NP_001317368.1:p.Gln72ArgfsTer2
NM_001330440.1:c.294_295insAGGTAGAACCTTATCTGCCATCTTC NP_001317369.1:p.Gln99ArgfsTer2
NM_001098426.2:c.438_439insAGGTAGAACCTTATCTGCCATCTTC MANE Select NP_001091896.1:p.Gln147ArgfsTer2
NM_001330440.2:c.294_295insAGGTAGAACCTTATCTGCCATCTTC NP_001317369.1:p.Gln99ArgfsTer2