Canonical Allele Identifier: CA6253783
Gene: DYNC2H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2213652
ClinVar RCV Id: RCV002665354
dbSNP Id: rs375297253

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103173289A>G , CM000673.2:g.103173289A>G GRCh38
NC_000011.9:g.103044018A>G , CM000673.1:g.103044018A>G GRCh37
NC_000011.8:g.102549228A>G NCBI36
NG_016423.1:g.68859A>G
NG_016423.2:g.68859A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.5542A>G MANE Plus Clinical ENSP00000497174.1:p.Ile1848Val
ENST00000375735.7:c.5542A>G MANE Select ENSP00000364887.2:p.Ile1848Val
ENST00000649323.1:c.*3087A>G ENSP00000497581.1:n.*3087A>G
ENST00000650373.1:c.5542A>G ENSP00000497174.1:p.Ile1848Val
ENST00000334267.11:c.2205+38870A>G ENSP00000334021.7:n.2205+38870A>G
ENST00000375735.6:c.5542A>G ENSP00000364887.2:p.Ile1848Val
ENST00000398093.7:c.5542A>G ENSP00000381167.3:p.Ile1848Val
NM_001080463.1:c.5542A>G NP_001073932.1:p.Ile1848Val
NM_001377.2:c.5542A>G NP_001368.2:p.Ile1848Val
XM_006718903.2:c.5542A>G XP_006718966.1:p.Ile1848Val
XM_017018291.1:c.5542A>G XP_016873780.1:p.Ile1848Val
XM_017018292.1:c.4924A>G XP_016873781.1:p.Ile1642Val
XM_017018293.1:c.5542A>G XP_016873782.1:p.Ile1848Val
NM_001377.3:c.5542A>G MANE Select NP_001368.2:p.Ile1848Val
NM_001080463.2:c.5542A>G MANE Plus Clinical NP_001073932.1:p.Ile1848Val