Canonical Allele Identifier: CA210607
Gene: DYNC2I2 HGNC NCBI

Linked Data

ClinVar Variation Id: 97045
ClinVar RCV Id: RCV000083291
dbSNP Id: rs587777098
gnomAD v4: 9-128634291-T-C
MyVariant Identifiers: chr9:g.131396570T>C (hg19) chr9:g.128634291T>C (hg38)
PubMed: PMID:24183451
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128634291T>C , CM000671.2:g.128634291T>C GRCh38
NC_000009.11:g.131396570T>C , CM000671.1:g.131396570T>C GRCh37
NC_000009.10:g.130436391T>C NCBI36
NG_027748.1:g.86734T>C
NG_034056.1:g.27560A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372715.7:c.1307A>G MANE Select ENSP00000361800.2:p.Lys436Arg
ENST00000372715.6:c.1307A>G ENSP00000361800.2:p.Lys436Arg
NM_052844.3:c.1307A>G NP_443076.2:p.Lys436Arg
XM_011519179.1:c.1223A>G XP_011517481.1:p.Lys408Arg
XM_011519179.2:c.1223A>G XP_011517481.1:p.Lys408Arg
NM_052844.4:c.1307A>G MANE Select NP_443076.2:p.Lys436Arg
Search 100 bp 5'
Search 100 bp 3'