Canonical Allele Identifier: CA2270105569
Gene: SMARCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837504_63837505delinsTC , CM000679.2:g.63837504_63837505delinsTC GRCh38
NC_000017.10:g.61914864_61914865delinsTC , CM000679.1:g.61914864_61914865delinsTC GRCh37
NC_000017.9:g.59268596_59268597delinsTC NCBI36
NG_053004.1:g.10487_10488delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.225_226delinsGA
ENST00000698016.1:c.196_197delinsGA ENSP00000513502.1:p.Asp66=
ENST00000698022.1:c.154_155delinsGA ENSP00000513504.1:p.Asp52=
ENST00000698027.1:c.196_197delinsGA ENSP00000513505.1:p.Asp66=
ENST00000448276.7:c.337_338delinsGA MANE Select ENSP00000392617.2:p.Asp113=
ENST00000225742.13:c.112_113delinsGA ENSP00000225742.9:p.Asp38=
ENST00000323347.14:c.193_194delinsGA ENSP00000318451.10:p.Asp65=
ENST00000448276.6:c.337_338delinsGA ENSP00000392617.2:p.Asp113=
ENST00000577686.1:n.53-268_53-267delinsGA
ENST00000580054.1:c.121_122delinsGA ENSP00000463793.1:p.Asp41=
ENST00000584400.5:c.217-268_217-267delinsGA ENSP00000464503.1:n.217-268_217-267delinsGA
ENST00000613943.4:c.226_227delinsGA ENSP00000483605.1:p.Asp76=
NM_001098426.1:c.337_338delinsGA NP_001091896.1:p.Asp113=
XM_005257604.2:c.112_113delinsGA XP_005257661.2:p.Asp38=
NM_001330439.1:c.112_113delinsGA NP_001317368.1:p.Asp38=
NM_001330440.1:c.193_194delinsGA NP_001317369.1:p.Asp65=
NM_001098426.2:c.337_338delinsGA MANE Select NP_001091896.1:p.Asp113=
NM_001330440.2:c.193_194delinsGA NP_001317369.1:p.Asp65=