Canonical Allele Identifier: CA6255083
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103283040G>A , CM000673.2:g.103283040G>A GRCh38
NC_000011.9:g.103153769G>A , CM000673.1:g.103153769G>A GRCh37
NC_000011.8:g.102658979G>A NCBI36
NG_016423.1:g.178610G>A
NG_016423.2:g.178610G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.10866G>A MANE Plus Clinical ENSP00000497174.1:p.Pro3622=
ENST00000375735.7:c.10845G>A MANE Select ENSP00000364887.2:p.Pro3615=
ENST00000650373.1:c.10866G>A ENSP00000497174.1:p.Pro3622=
ENST00000334267.11:c.2205+148621G>A ENSP00000334021.7:n.2205+148621G>A
ENST00000375735.6:c.10845G>A ENSP00000364887.2:p.Pro3615=
ENST00000398093.7:c.10866G>A ENSP00000381167.3:p.Pro3622=
ENST00000525306.1:n.106G>A
ENST00000528670.5:c.24G>A ENSP00000433451.1:p.Pro8=
NM_001080463.1:c.10866G>A NP_001073932.1:p.Pro3622=
NM_001377.2:c.10845G>A NP_001368.2:p.Pro3615=
XM_006718903.2:c.10824G>A XP_006718966.1:p.Pro3608=
XM_017018291.1:c.10845G>A XP_016873780.1:p.Pro3615=
XM_017018292.1:c.10227G>A XP_016873781.1:p.Pro3409=
NM_001377.3:c.10845G>A MANE Select NP_001368.2:p.Pro3615=
NM_001080463.2:c.10866G>A MANE Plus Clinical NP_001073932.1:p.Pro3622=