Canonical Allele Identifier: CA2270105584
Gene: SMARCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837534A= , CM000679.2:g.63837534A= GRCh38
NC_000017.10:g.61914894A= , CM000679.1:g.61914894A= GRCh37
NC_000017.9:g.59268626A= NCBI36
NG_053004.1:g.10458T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.196T=
ENST00000698016.1:c.167T= ENSP00000513502.1:p.Leu56=
ENST00000698022.1:c.125T= ENSP00000513504.1:p.Leu42=
ENST00000698027.1:c.167T= ENSP00000513505.1:p.Leu56=
ENST00000448276.7:c.308T= MANE Select ENSP00000392617.2:p.Leu103=
ENST00000225742.13:c.83T= ENSP00000225742.9:p.Leu28=
ENST00000323347.14:c.164T= ENSP00000318451.10:p.Leu55=
ENST00000448276.6:c.308T= ENSP00000392617.2:p.Leu103=
ENST00000577686.1:n.53-297T=
ENST00000580054.1:c.92T= ENSP00000463793.1:p.Leu31=
ENST00000584400.5:c.217-297T= ENSP00000464503.1:n.217-297T=
ENST00000613943.4:c.197T= ENSP00000483605.1:p.Leu66=
NM_001098426.1:c.308T= NP_001091896.1:p.Leu103=
XM_005257604.2:c.83T= XP_005257661.2:p.Leu28=
NM_001330439.1:c.83T= NP_001317368.1:p.Leu28=
NM_001330440.1:c.164T= NP_001317369.1:p.Leu55=
NM_001098426.2:c.308T= MANE Select NP_001091896.1:p.Leu103=
NM_001330440.2:c.164T= NP_001317369.1:p.Leu55=