Canonical Allele Identifier: CA210509
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103209933C>T , CM000673.2:g.103209933C>T GRCh38
NC_000011.9:g.103080662C>T , CM000673.1:g.103080662C>T GRCh37
NC_000011.8:g.102585872C>T NCBI36
NG_016423.1:g.105503C>T
NG_016423.2:g.105503C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.8512C>T MANE Plus Clinical ENSP00000497174.1:p.Arg2838Ter
ENST00000375735.7:c.8512C>T MANE Select ENSP00000364887.2:p.Arg2838Ter
ENST00000650373.1:c.8512C>T ENSP00000497174.1:p.Arg2838Ter
ENST00000334267.11:c.2205+75514C>T ENSP00000334021.7:n.2205+75514C>T
ENST00000375735.6:c.8512C>T ENSP00000364887.2:p.Arg2838Ter
ENST00000398093.7:c.8512C>T ENSP00000381167.3:p.Arg2838Ter
ENST00000533027.1:n.112C>T
NM_001080463.1:c.8512C>T NP_001073932.1:p.Arg2838Ter
NM_001377.2:c.8512C>T NP_001368.2:p.Arg2838Ter
XM_006718903.2:c.8491C>T XP_006718966.1:p.Arg2831Ter
XM_017018291.1:c.8512C>T XP_016873780.1:p.Arg2838Ter
XM_017018292.1:c.7894C>T XP_016873781.1:p.Arg2632Ter
NM_001377.3:c.8512C>T MANE Select NP_001368.2:p.Arg2838Ter
NM_001080463.2:c.8512C>T MANE Plus Clinical NP_001073932.1:p.Arg2838Ter