Canonical Allele Identifier: CA6255319
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103311962C>A , CM000673.2:g.103311962C>A GRCh38
NC_000011.9:g.103182691C>A , CM000673.1:g.103182691C>A GRCh37
NC_000011.8:g.102687901C>A NCBI36
NG_016423.1:g.207532C>A
NG_016423.2:g.207532C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.11599C>A MANE Plus Clinical ENSP00000497174.1:p.Arg3867=
ENST00000375735.7:c.11578C>A MANE Select ENSP00000364887.2:p.Arg3860=
ENST00000650373.1:c.11599C>A ENSP00000497174.1:p.Arg3867=
ENST00000334267.11:c.2206-123981C>A ENSP00000334021.7:n.2206-123981C>A
ENST00000375735.6:c.11578C>A ENSP00000364887.2:p.Arg3860=
ENST00000398093.7:c.11599C>A ENSP00000381167.3:p.Arg3867=
ENST00000528670.5:c.757C>A ENSP00000433451.1:p.Arg253=
NM_001080463.1:c.11599C>A NP_001073932.1:p.Arg3867=
NM_001377.2:c.11578C>A NP_001368.2:p.Arg3860=
XM_006718903.2:c.11557C>A XP_006718966.1:p.Arg3853=
XM_017018291.1:c.11578C>A XP_016873780.1:p.Arg3860=
XM_017018292.1:c.10960C>A XP_016873781.1:p.Arg3654=
NM_001377.3:c.11578C>A MANE Select NP_001368.2:p.Arg3860=
NM_001080463.2:c.11599C>A MANE Plus Clinical NP_001073932.1:p.Arg3867=