Canonical Allele Identifier: CA1635820

Gene: DYNC2LI1

Linked Data

• ClinVar Variation Id: 212766
• ClinVar RCV Id: RCV000239657 ; RCV000754097 ; RCV001853128
• dbSNP Id: rs769975073
• ExAC: 2:44021647 G / A
• gnomAD v2: 2-44021647-G-A
• gnomAD v3: 2-43794508-G-A
• gnomAD v4: 2-43794508-G-A
• MyVariant Identifiers: chr2:g.44021647G>A (hg19) ; chr2:g.43794508G>A (hg38)
• PubMed: PMID:26077881

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43794508G>A , CM000664.2:g.43794508G>A	GRCh38
NC_000002.11:g.44021647G>A , CM000664.1:g.44021647G>A	GRCh37
NC_000002.10:g.43875151G>A	NCBI36
NG_053008.1:g.25470G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260605.12:c.372G>A MANE Select	ENSP00000260605.8:p.Trp124Ter
ENST00000378587.3:c.323G>A
ENST00000398823.6:c.*1718G>A	ENSP00000381804.2:n.*1718G>A
ENST00000406852.7:c.372G>A	ENSP00000385738.3:p.Trp124Ter
ENST00000462426.1:c.*224G>A	ENSP00000428082.1:n.*224G>A
ENST00000479242.5:c.*83G>A	ENSP00000430525.1:n.*83G>A
ENST00000489222.6:n.328G>A
ENST00000605786.5:c.372G>A	ENSP00000474032.1:p.Trp124Ter
NM_001193464.1:c.372G>A	NP_001180393.1:p.Trp124Ter
NM_015522.3:c.372G>A	NP_056337.1:p.Trp124Ter
NM_016008.3:c.372G>A	NP_057092.2:p.Trp124Ter
XM_005264364.3:c.372G>A	XP_005264421.1:p.Trp124Ter
XM_005264365.3:c.372G>A	XP_005264422.1:p.Trp124Ter
NM_001348912.1:c.372G>A	NP_001335841.1:p.Trp124Ter
NM_001348913.1:c.372G>A	NP_001335842.1:p.Trp124Ter
NM_016008.4:c.372G>A MANE Select	NP_057092.2:p.Trp124Ter
NM_001193464.2:c.372G>A	NP_001180393.1:p.Trp124Ter
NM_001348912.2:c.372G>A	NP_001335841.1:p.Trp124Ter
NM_001348913.2:c.372G>A	NP_001335842.1:p.Trp124Ter
NM_015522.4:c.372G>A	NP_056337.1:p.Trp124Ter