Canonical Allele Identifier: CA2270105511
Gene: SMARCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837393_63837394delinsAC , CM000679.2:g.63837393_63837394delinsAC GRCh38
NC_000017.10:g.61914753_61914754delinsAC , CM000679.1:g.61914753_61914754delinsAC GRCh37
NC_000017.9:g.59268485_59268486delinsAC NCBI36
NG_053004.1:g.10598_10599delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.336_337delinsGT
ENST00000698015.1:n.35+47_35+48delinsGT
ENST00000698016.1:c.260+47_260+48delinsGT ENSP00000513502.1:n.260+47_260+48delinsGT
ENST00000698020.1:n.34_35delinsGT
ENST00000698021.1:c.64+47_64+48delinsGT
ENST00000698022.1:c.218+47_218+48delinsGT ENSP00000513504.1:n.218+47_218+48delinsGT
ENST00000698027.1:c.260+47_260+48delinsGT ENSP00000513505.1:n.260+47_260+48delinsGT
ENST00000448276.7:c.401+47_401+48delinsGT MANE Select ENSP00000392617.2:n.401+47_401+48delinsGT
ENST00000225742.13:c.176+47_176+48delinsGT ENSP00000225742.9:n.176+47_176+48delinsGT
ENST00000323347.14:c.257+47_257+48delinsGT ENSP00000318451.10:n.257+47_257+48delinsGT
ENST00000448276.6:c.401+47_401+48delinsGT ENSP00000392617.2:n.401+47_401+48delinsGT
ENST00000577686.1:n.53-157_53-156delinsGT
ENST00000580054.1:c.185+47_185+48delinsGT ENSP00000463793.1:n.185+47_185+48delinsGT
ENST00000584400.5:c.217-157_217-156delinsGT ENSP00000464503.1:n.217-157_217-156delinsGT
ENST00000613943.4:c.290+47_290+48delinsGT ENSP00000483605.1:n.290+47_290+48delinsGT
NM_001098426.1:c.401+47_401+48delinsGT NP_001091896.1:n.401+47_401+48delinsGT
XM_005257604.2:c.176+47_176+48delinsGT XP_005257661.2:n.176+47_176+48delinsGT
NM_001330439.1:c.176+47_176+48delinsGT NP_001317368.1:n.176+47_176+48delinsGT
NM_001330440.1:c.257+47_257+48delinsGT NP_001317369.1:n.257+47_257+48delinsGT
NM_001098426.2:c.401+47_401+48delinsGT MANE Select NP_001091896.1:n.401+47_401+48delinsGT
NM_001330440.2:c.257+47_257+48delinsGT NP_001317369.1:n.257+47_257+48delinsGT