Canonical Allele Identifier: CA5266193

Gene: DYNC2I2

Linked Data

• ClinVar Variation Id: 2199576
• ClinVar RCV Id: RCV002625005
• dbSNP Id: rs759235351
• ExAC: 9:131396217 T / G
• gnomAD v2: 9-131396217-T-G
• gnomAD v3: 9-128633938-T-G
• gnomAD v4: 9-128633938-T-G
• COSMIC: COSM5514530
• MyVariant Identifiers: chr9:g.131396217T>G (hg19) ; chr9:g.128633938T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128633938T>G , CM000671.2:g.128633938T>G	GRCh38
NC_000009.11:g.131396217T>G , CM000671.1:g.131396217T>G	GRCh37
NC_000009.10:g.130436038T>G	NCBI36
NG_027748.1:g.86381T>G
NG_034056.1:g.27913A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372715.7:c.1417A>C MANE Select	ENSP00000361800.2:p.Thr473Pro
ENST00000372715.6:c.1417A>C	ENSP00000361800.2:p.Thr473Pro
NM_052844.3:c.1417A>C	NP_443076.2:p.Thr473Pro
XM_011519179.1:c.1333A>C	XP_011517481.1:p.Thr445Pro
XM_011519179.2:c.1333A>C	XP_011517481.1:p.Thr445Pro
NM_052844.4:c.1417A>C MANE Select	NP_443076.2:p.Thr473Pro