Canonical Allele Identifier: CA375108068
Gene: DYNC2I2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.128633958T>G
GRCh37 chr9:g.131396237T>G
Revel Score:
ENST00000372715 (MANE Select) 0.104
gnomAD v3:
9:128633958 T / G
gnomAD v4:
chr9-128633958-T-G
Joint Max Group AF 0.00000803 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000652 (NFE)
ClinVar RCV:
RCV001291410
ClinVar Variation:
446624
dbSNP:
1554770620
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128633958T>G , CM000671.2:g.128633958T>G GRCh38
NC_000009.11:g.131396237T>G , CM000671.1:g.131396237T>G GRCh37
NC_000009.10:g.130436058T>G NCBI36
NG_027748.1:g.86401T>G
NG_034056.1:g.27893A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372715.7:c.1397A>C MANE Select ENSP00000361800.2:p.Gln466Pro
ENST00000372715.6:c.1397A>C ENSP00000361800.2:p.Gln466Pro
NM_052844.3:c.1397A>C NP_443076.2:p.Gln466Pro
XM_011519179.1:c.1313A>C XP_011517481.1:p.Gln438Pro
XM_011519179.2:c.1313A>C XP_011517481.1:p.Gln438Pro
NM_052844.4:c.1397A>C MANE Select NP_443076.2:p.Gln466Pro
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