Canonical Allele Identifier: CA10637346
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103245353A>C , CM000673.2:g.103245353A>C GRCh38
NC_000011.9:g.103116082A>C , CM000673.1:g.103116082A>C GRCh37
NC_000011.8:g.102621292A>C NCBI36
NG_016423.1:g.140923A>C
NG_016423.2:g.140923A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.10042A>C MANE Plus Clinical ENSP00000497174.1:p.Arg3348=
ENST00000375735.7:c.10021A>C MANE Select ENSP00000364887.2:p.Arg3341=
ENST00000650373.1:c.10042A>C ENSP00000497174.1:p.Arg3348=
ENST00000334267.11:c.2205+110934A>C ENSP00000334021.7:n.2205+110934A>C
ENST00000375735.6:c.10021A>C ENSP00000364887.2:p.Arg3341=
ENST00000398093.7:c.10042A>C ENSP00000381167.3:p.Arg3348=
NM_001080463.1:c.10042A>C NP_001073932.1:p.Arg3348=
NM_001377.2:c.10021A>C NP_001368.2:p.Arg3341=
XM_006718903.2:c.10000A>C XP_006718966.1:p.Arg3334=
XM_017018291.1:c.10021A>C XP_016873780.1:p.Arg3341=
XM_017018292.1:c.9403A>C XP_016873781.1:p.Arg3135=
NM_001377.3:c.10021A>C MANE Select NP_001368.2:p.Arg3341=
NM_001080463.2:c.10042A>C MANE Plus Clinical NP_001073932.1:p.Arg3348=