Canonical Allele Identifier: CA227412382
Gene: DYNC2H1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103200154G>T , CM000673.2:g.103200154G>T GRCh38
NC_000011.9:g.103070883G>T , CM000673.1:g.103070883G>T GRCh37
NC_000011.8:g.102576093G>T NCBI36
NG_016423.1:g.95724G>T
NG_016423.2:g.95724G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.8197G>T MANE Plus Clinical ENSP00000497174.1:p.Gly2733Cys
ENST00000375735.7:c.8197G>T MANE Select ENSP00000364887.2:p.Gly2733Cys
ENST00000649323.1:c.*5721G>T ENSP00000497581.1:n.*5721G>T
ENST00000650373.1:c.8197G>T ENSP00000497174.1:p.Gly2733Cys
ENST00000334267.11:c.2205+65735G>T ENSP00000334021.7:n.2205+65735G>T
ENST00000375735.6:c.8197G>T ENSP00000364887.2:p.Gly2733Cys
ENST00000398093.7:c.8197G>T ENSP00000381167.3:p.Gly2733Cys
NM_001080463.1:c.8197G>T NP_001073932.1:p.Gly2733Cys
NM_001377.2:c.8197G>T NP_001368.2:p.Gly2733Cys
XM_006718903.2:c.8176G>T XP_006718966.1:p.Gly2726Cys
XM_017018291.1:c.8197G>T XP_016873780.1:p.Gly2733Cys
XM_017018292.1:c.7579G>T XP_016873781.1:p.Gly2527Cys
NM_001377.3:c.8197G>T MANE Select NP_001368.2:p.Gly2733Cys
NM_001080463.2:c.8197G>T MANE Plus Clinical NP_001073932.1:p.Gly2733Cys