Canonical Allele Identifier: CA2810124248
Gene: SMARCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837655A>C , CM000679.2:g.63837655A>C GRCh38
NC_000017.10:g.61915015A>C , CM000679.1:g.61915015A>C GRCh37
NC_000017.9:g.59268747A>C NCBI36
NG_053004.1:g.10337T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.105-30T>G
ENST00000698016.1:c.46T>G ENSP00000513502.1:p.Tyr16Asp
ENST00000698022.1:c.34-30T>G ENSP00000513504.1:n.34-30T>G
ENST00000698027.1:c.46T>G ENSP00000513505.1:p.Tyr16Asp
ENST00000448276.7:c.217-30T>G MANE Select ENSP00000392617.2:n.217-30T>G
ENST00000225742.13:c.-9-30T>G ENSP00000225742.9:n.-9-30T>G
ENST00000323347.14:c.73-30T>G ENSP00000318451.10:n.73-30T>G
ENST00000448276.6:c.217-30T>G ENSP00000392617.2:n.217-30T>G
ENST00000577686.1:n.53-418T>G
ENST00000584400.5:c.217-418T>G ENSP00000464503.1:n.217-418T>G
ENST00000613943.4:c.106-30T>G ENSP00000483605.1:n.106-30T>G
NM_001098426.1:c.217-30T>G NP_001091896.1:n.217-30T>G
XM_005257604.2:c.-9-30T>G XP_005257661.2:n.-9-30T>G
NM_001330439.1:c.-9-30T>G NP_001317368.1:n.-9-30T>G
NM_001330440.1:c.73-30T>G NP_001317369.1:n.73-30T>G
NM_001098426.2:c.217-30T>G MANE Select NP_001091896.1:n.217-30T>G
NM_001330440.2:c.73-30T>G NP_001317369.1:n.73-30T>G