Canonical Allele Identifier: CA375109510
Gene: DYNC2I2 HGNC NCBI

Linked Data

dbSNP Id: rs587777098
MyVariant Identifiers: chr9:g.131396570T>G (hg19) chr9:g.128634291T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000372715.7:c.1307A>C MANE Select ENSP00000361800.2:p.Lys436Thr
ENST00000372715.6:c.1307A>C ENSP00000361800.2:p.Lys436Thr
NM_052844.3:c.1307A>C NP_443076.2:p.Lys436Thr
XM_011519179.1:c.1223A>C XP_011517481.1:p.Lys408Thr
XM_011519179.2:c.1223A>C XP_011517481.1:p.Lys408Thr
NM_052844.4:c.1307A>C MANE Select NP_443076.2:p.Lys436Thr
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