Canonical Allele Identifier: CA1635825
Gene: DYNC2LI1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.43794530C>A
GRCh37 chr2:g.44021669C>A
Revel Score:
ENST00000260605 (MANE Select) 0.062
ENST00000443170 0.062
ENST00000406852 0.062
gnomAD v2:
2:44021669 C / A
gnomAD v4:
chr2-43794530-C-A
Joint Max Group AF 0.00052072 (EAS)
Exomes Max Group AF 0.00058916 (EAS)
ClinVar RCV:
RCV000516090
ClinVar Variation:
446696
dbSNP:
76483206
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43794530C>A , CM000664.2:g.43794530C>A GRCh38
NC_000002.11:g.44021669C>A , CM000664.1:g.44021669C>A GRCh37
NC_000002.10:g.43875173C>A NCBI36
NG_053008.1:g.25492C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260605.12:c.394C>A MANE Select ENSP00000260605.8:p.Gln132Lys
ENST00000378587.3:c.345C>A
ENST00000398823.6:c.*1740C>A ENSP00000381804.2:n.*1740C>A
ENST00000406852.7:c.394C>A ENSP00000385738.3:p.Gln132Lys
ENST00000462426.1:c.*246C>A ENSP00000428082.1:n.*246C>A
ENST00000479242.5:c.*105C>A ENSP00000430525.1:n.*105C>A
ENST00000489222.6:n.350C>A
ENST00000605786.5:c.394C>A ENSP00000474032.1:p.Gln132Lys
NM_001193464.1:c.394C>A NP_001180393.1:p.Gln132Lys
NM_015522.3:c.394C>A NP_056337.1:p.Gln132Lys
NM_016008.3:c.394C>A NP_057092.2:p.Gln132Lys
XM_005264364.3:c.394C>A XP_005264421.1:p.Gln132Lys
XM_005264365.3:c.394C>A XP_005264422.1:p.Gln132Lys
NM_001348912.1:c.394C>A NP_001335841.1:p.Gln132Lys
NM_001348913.1:c.394C>A NP_001335842.1:p.Gln132Lys
NM_016008.4:c.394C>A MANE Select NP_057092.2:p.Gln132Lys
NM_001193464.2:c.394C>A NP_001180393.1:p.Gln132Lys
NM_001348912.2:c.394C>A NP_001335841.1:p.Gln132Lys
NM_001348913.2:c.394C>A NP_001335842.1:p.Gln132Lys
NM_015522.4:c.394C>A NP_056337.1:p.Gln132Lys
Search 100 bp 5'
Search 100 bp 3'