Canonical Allele Identifier: CA210605
Gene: DYNC2I2 HGNC NCBI

Linked Data

ClinVar Variation Id: 97044
ClinVar RCV Id: RCV000083290
dbSNP Id: rs587777097
ExAC: 9:131399270 G / A
gnomAD v2: 9-131399270-G-A
gnomAD v3: 9-128636991-G-A
gnomAD v4: 9-128636991-G-A
MyVariant Identifiers: chr9:g.131399270G>A (hg19) chr9:g.128636991G>A (hg38)
PubMed: PMID:24183451
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128636991G>A , CM000671.2:g.128636991G>A GRCh38
NC_000009.11:g.131399270G>A , CM000671.1:g.131399270G>A GRCh37
NC_000009.10:g.130439091G>A NCBI36
NG_034056.1:g.24860C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372715.7:c.472C>T MANE Select ENSP00000361800.2:p.Gln158Ter
ENST00000419989.2:c.391-553C>T ENSP00000415421.1:n.391-553C>T
ENST00000480613.6:n.391-553C>T
ENST00000372715.6:c.472C>T ENSP00000361800.2:p.Gln158Ter
ENST00000419989.1:c.391-553C>T ENSP00000415421.1:n.391-553C>T
ENST00000451652.5:c.445C>T ENSP00000411370.1:p.Gln149Ter
ENST00000473486.1:n.38C>T
ENST00000480613.5:n.391-553C>T
NM_052844.3:c.472C>T NP_443076.2:p.Gln158Ter
XM_011519179.1:c.472C>T XP_011517481.1:p.Gln158Ter
XM_011519179.2:c.472C>T XP_011517481.1:p.Gln158Ter
NM_052844.4:c.472C>T MANE Select NP_443076.2:p.Gln158Ter
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