Canonical Allele Identifier: CA16040621
Gene: SMARCD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369729
ClinVar RCV Id: RCV000415510 RCV000490556
dbSNP Id: rs1057518731
MyVariant Identifiers: chr17:g.61911268C>T (hg19) chr17:g.63833908C>T (hg38)
PubMed: PMID:28369036
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63833908C>T , CM000679.2:g.63833908C>T GRCh38
NC_000017.10:g.61911268C>T , CM000679.1:g.61911268C>T GRCh37
NC_000017.9:g.59265000C>T NCBI36
NG_053004.1:g.14084G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000584483.6:n.1383+1G>A
ENST00000697953.1:n.2033+1G>A
ENST00000698013.1:n.2145+1G>A
ENST00000698014.1:n.2291+1G>A
ENST00000698015.1:n.1461+1G>A
ENST00000698016.1:c.1040+1G>A ENSP00000513502.1:n.1040+1G>A
ENST00000698017.1:n.1535+1G>A
ENST00000698018.1:n.1666+1G>A
ENST00000698019.1:n.1864+1G>A
ENST00000698020.1:n.970+1G>A
ENST00000698021.1:c.879+1G>A
ENST00000698022.1:c.1019+1G>A ENSP00000513504.1:n.1019+1G>A
ENST00000698023.1:n.1474+1G>A
ENST00000698024.1:n.1349+1G>A
ENST00000698025.1:n.1382+1G>A
ENST00000698026.1:n.292G>A
ENST00000698027.1:c.1040+1G>A ENSP00000513505.1:n.1040+1G>A
ENST00000698028.1:n.1376+1G>A
ENST00000698029.1:n.2028+1G>A
ENST00000448276.7:c.1181+1G>A MANE Select ENSP00000392617.2:n.1181+1G>A
ENST00000225742.13:c.956+1G>A ENSP00000225742.9:n.956+1G>A
ENST00000323347.14:c.1037+1G>A ENSP00000318451.10:n.1037+1G>A
ENST00000448276.6:c.1181+1G>A ENSP00000392617.2:n.1181+1G>A
ENST00000450364.3:c.402+1G>A
ENST00000584483.5:n.803+1G>A
ENST00000613943.4:c.1070+1G>A ENSP00000483605.1:n.1070+1G>A
NM_001098426.1:c.1181+1G>A NP_001091896.1:n.1181+1G>A
XM_005257604.2:c.956+1G>A XP_005257661.2:n.956+1G>A
NM_001330439.1:c.956+1G>A NP_001317368.1:n.956+1G>A
NM_001330440.1:c.1037+1G>A NP_001317369.1:n.1037+1G>A
NM_001098426.2:c.1181+1G>A MANE Select NP_001091896.1:n.1181+1G>A
NM_001330440.2:c.1037+1G>A NP_001317369.1:n.1037+1G>A
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