Canonical Allele Identifier: CA210601
Gene: DYNC2I2 HGNC NCBI

Linked Data

ClinVar Variation Id: 97040
ClinVar RCV Id: RCV000083286
dbSNP Id: rs587777094
ExAC: 9:131396537 C / T
gnomAD v2: 9-131396537-C-T
gnomAD v4: 9-128634258-C-T
MyVariant Identifiers: chr9:g.131396537C>T (hg19) chr9:g.128634258C>T (hg38)
PubMed: PMID:24183449
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128634258C>T , CM000671.2:g.128634258C>T GRCh38
NC_000009.11:g.131396537C>T , CM000671.1:g.131396537C>T GRCh37
NC_000009.10:g.130436358C>T NCBI36
NG_027748.1:g.86701C>T
NG_034056.1:g.27593G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372715.7:c.1340G>A MANE Select ENSP00000361800.2:p.Arg447Gln
ENST00000372715.6:c.1340G>A ENSP00000361800.2:p.Arg447Gln
NM_052844.3:c.1340G>A NP_443076.2:p.Arg447Gln
XM_011519179.1:c.1256G>A XP_011517481.1:p.Arg419Gln
XM_011519179.2:c.1256G>A XP_011517481.1:p.Arg419Gln
NM_052844.4:c.1340G>A MANE Select NP_443076.2:p.Arg447Gln
Search 100 bp 5'
Search 100 bp 3'