Canonical Allele Identifier: CA5266174

Gene: DYNC2I2

Linked Data

• ClinVar Variation Id: 446621
• ClinVar RCV Id: RCV000515944 ; RCV001770390 ; RCV002231194
• dbSNP Id: rs751323441
• ExAC: 9:131396154 G / A
• gnomAD v2: 9-131396154-G-A
• gnomAD v4: 9-128633875-G-A
• MyVariant Identifiers: chr9:g.131396154G>A (hg19) ; chr9:g.128633875G>A (hg38)
• PubMed: PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128633875G>A , CM000671.2:g.128633875G>A	GRCh38
NC_000009.11:g.131396154G>A , CM000671.1:g.131396154G>A	GRCh37
NC_000009.10:g.130435975G>A	NCBI36
NG_027748.1:g.86318G>A
NG_034056.1:g.27976C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372715.7:c.1480C>T MANE Select	ENSP00000361800.2:p.Gln494Ter
ENST00000372715.6:c.1480C>T	ENSP00000361800.2:p.Gln494Ter
NM_052844.3:c.1480C>T	NP_443076.2:p.Gln494Ter
XM_011519179.1:c.1396C>T	XP_011517481.1:p.Gln466Ter
XM_011519179.2:c.1396C>T	XP_011517481.1:p.Gln466Ter
NM_052844.4:c.1480C>T MANE Select	NP_443076.2:p.Gln494Ter