Canonical Allele Identifier: CA1636078
Gene: DYNC2LI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212764
ClinVar RCV Id: RCV000239722 RCV000754095 RCV001853127
dbSNP Id: rs374356079
ExAC: 2:44032386 G / A
gnomAD v2: 2-44032386-G-A
gnomAD v3: 2-43805247-G-A
gnomAD v4: 2-43805247-G-A
MyVariant Identifiers: chr2:g.44032386G>A (hg19) chr2:g.43805247G>A (hg38)
PubMed: PMID:26077881
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43805247G>A , CM000664.2:g.43805247G>A GRCh38
NC_000002.11:g.44032386G>A , CM000664.1:g.44032386G>A GRCh37
NC_000002.10:g.43885890G>A NCBI36
NG_053008.1:g.36209G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260605.12:c.993+1G>A MANE Select ENSP00000260605.8:n.993+1G>A
ENST00000378587.3:c.945G>A
ENST00000605786.5:c.996+1G>A ENSP00000474032.1:n.996+1G>A
NM_001193464.1:c.996+1G>A NP_001180393.1:n.996+1G>A
NM_016008.3:c.993+1G>A NP_057092.2:n.993+1G>A
XM_005264364.3:c.996+1G>A XP_005264421.1:n.996+1G>A
XM_005264365.3:c.993+1G>A XP_005264422.1:n.993+1G>A
NM_001348912.1:c.993+1G>A NP_001335841.1:n.993+1G>A
NM_001348913.1:c.996+1G>A NP_001335842.1:n.996+1G>A
NM_016008.4:c.993+1G>A MANE Select NP_057092.2:n.993+1G>A
NM_001193464.2:c.996+1G>A NP_001180393.1:n.996+1G>A
NM_001348912.2:c.993+1G>A NP_001335841.1:n.993+1G>A
NM_001348913.2:c.996+1G>A NP_001335842.1:n.996+1G>A
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