Canonical Allele Identifier: CA5266709
Gene: DYNC2I2 HGNC NCBI

Linked Data

ClinVar Variation Id: 474848
ClinVar RCV Id: RCV000542851 RCV001692190 RCV003935522
dbSNP Id: rs12380424
ExAC: 9:131403221 G / T
gnomAD v2: 9-131403221-G-T
gnomAD v3: 9-128640942-G-T
gnomAD v4: 9-128640942-G-T
MyVariant Identifiers: chr9:g.131403221G>T (hg19) chr9:g.128640942G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128640942G>T , CM000671.2:g.128640942G>T GRCh38
NC_000009.11:g.131403221G>T , CM000671.1:g.131403221G>T GRCh37
NC_000009.10:g.130443042G>T NCBI36
NG_034056.1:g.20909C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372715.7:c.187-3C>A MANE Select ENSP00000361800.2:n.187-3C>A
ENST00000419989.2:c.142-3C>A ENSP00000415421.1:n.142-3C>A
ENST00000480613.6:n.142-3C>A
ENST00000372715.6:c.187-3C>A ENSP00000361800.2:n.187-3C>A
ENST00000419989.1:c.142-3C>A ENSP00000415421.1:n.142-3C>A
ENST00000451652.5:c.160-3C>A ENSP00000411370.1:n.160-3C>A
ENST00000480613.5:n.142-3C>A
NM_052844.3:c.187-3C>A NP_443076.2:n.187-3C>A
XM_011519179.1:c.187-3C>A XP_011517481.1:n.187-3C>A
XM_011519179.2:c.187-3C>A XP_011517481.1:n.187-3C>A
NM_052844.4:c.187-3C>A MANE Select NP_443076.2:n.187-3C>A
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