Canonical Allele Identifier: CA6255349
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103316598C>T , CM000673.2:g.103316598C>T GRCh38
NC_000011.9:g.103187327C>T , CM000673.1:g.103187327C>T GRCh37
NC_000011.8:g.102692537C>T NCBI36
NG_016423.1:g.212168C>T
NG_016423.2:g.212168C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.11724C>T MANE Plus Clinical ENSP00000497174.1:p.Asn3908=
ENST00000375735.7:c.11703C>T MANE Select ENSP00000364887.2:p.Asn3901=
ENST00000650373.1:c.11724C>T ENSP00000497174.1:p.Asn3908=
ENST00000334267.11:c.2206-119345C>T ENSP00000334021.7:n.2206-119345C>T
ENST00000375735.6:c.11703C>T ENSP00000364887.2:p.Asn3901=
ENST00000398093.7:c.11724C>T ENSP00000381167.3:p.Asn3908=
ENST00000528670.5:c.882C>T ENSP00000433451.1:p.Asn294=
NM_001080463.1:c.11724C>T NP_001073932.1:p.Asn3908=
NM_001377.2:c.11703C>T NP_001368.2:p.Asn3901=
XM_006718903.2:c.11682C>T XP_006718966.1:p.Asn3894=
XM_017018291.1:c.11703C>T XP_016873780.1:p.Asn3901=
XM_017018292.1:c.11085C>T XP_016873781.1:p.Asn3695=
NM_001377.3:c.11703C>T MANE Select NP_001368.2:p.Asn3901=
NM_001080463.2:c.11724C>T MANE Plus Clinical NP_001073932.1:p.Asn3908=