Canonical Allele Identifier: CA382257957
Gene: DYNC2H1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103203777G>A , CM000673.2:g.103203777G>A GRCh38
NC_000011.9:g.103074506G>A , CM000673.1:g.103074506G>A GRCh37
NC_000011.8:g.102579716G>A NCBI36
NG_016423.1:g.99347G>A
NG_016423.2:g.99347G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.8311+1G>A MANE Plus Clinical ENSP00000497174.1:n.8311+1G>A
ENST00000375735.7:c.8311+1G>A MANE Select ENSP00000364887.2:n.8311+1G>A
ENST00000649323.1:c.*5835+1G>A ENSP00000497581.1:n.*5835+1G>A
ENST00000650373.1:c.8311+1G>A ENSP00000497174.1:n.8311+1G>A
ENST00000334267.11:c.2205+69358G>A ENSP00000334021.7:n.2205+69358G>A
ENST00000375735.6:c.8311+1G>A ENSP00000364887.2:n.8311+1G>A
ENST00000398093.7:c.8311+1G>A ENSP00000381167.3:n.8311+1G>A
NM_001080463.1:c.8311+1G>A NP_001073932.1:n.8311+1G>A
NM_001377.2:c.8311+1G>A NP_001368.2:n.8311+1G>A
XM_006718903.2:c.8290+1G>A XP_006718966.1:n.8290+1G>A
XM_017018291.1:c.8311+1G>A XP_016873780.1:n.8311+1G>A
XM_017018292.1:c.7693+1G>A XP_016873781.1:n.7693+1G>A
NM_001377.3:c.8311+1G>A MANE Select NP_001368.2:n.8311+1G>A
NM_001080463.2:c.8311+1G>A MANE Plus Clinical NP_001073932.1:n.8311+1G>A