Canonical Allele Identifier: CA6255695
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103479158A>G , CM000673.2:g.103479158A>G GRCh38
NC_000011.9:g.103349886A>G , CM000673.1:g.103349886A>G GRCh37
NC_000011.8:g.102855096A>G NCBI36
NG_016423.1:g.374727A>G
NG_016423.2:g.374728A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.12850A>G MANE Plus Clinical ENSP00000497174.1:p.Arg4284Gly
ENST00000375735.7:c.12829A>G MANE Select ENSP00000364887.2:p.Arg4277Gly
ENST00000650373.1:c.12850A>G ENSP00000497174.1:p.Arg4284Gly
ENST00000334267.11:c.2668A>G ENSP00000334021.7:p.Arg890Gly
ENST00000375735.6:c.12829A>G ENSP00000364887.2:p.Arg4277Gly
ENST00000398093.7:c.12850A>G ENSP00000381167.3:p.Arg4284Gly
ENST00000527252.1:n.381A>G
ENST00000528670.5:c.2012A>G ENSP00000433451.1:n.2012A>G
ENST00000530547.1:n.560A>G
ENST00000533197.1:c.580A>G ENSP00000436736.1:p.Arg194Gly
NM_001080463.1:c.12850A>G NP_001073932.1:p.Arg4284Gly
NM_001377.2:c.12829A>G NP_001368.2:p.Arg4277Gly
XM_006718903.2:c.12808A>G XP_006718966.1:p.Arg4270Gly
XM_017018291.1:c.12619A>G XP_016873780.1:p.Arg4207Gly
XM_017018292.1:c.12211A>G XP_016873781.1:p.Arg4071Gly
NM_001377.3:c.12829A>G MANE Select NP_001368.2:p.Arg4277Gly
NM_001080463.2:c.12850A>G MANE Plus Clinical NP_001073932.1:p.Arg4284Gly