Canonical Allele Identifier: CA6254629
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103222165G>A , CM000673.2:g.103222165G>A GRCh38
NC_000011.9:g.103092894G>A , CM000673.1:g.103092894G>A GRCh37
NC_000011.8:g.102598104G>A NCBI36
NG_016423.1:g.117735G>A
NG_016423.2:g.117735G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.9231+12G>A MANE Plus Clinical ENSP00000497174.1:n.9231+12G>A
ENST00000375735.7:c.9231+12G>A MANE Select ENSP00000364887.2:n.9231+12G>A
ENST00000650373.1:c.9231+12G>A ENSP00000497174.1:n.9231+12G>A
ENST00000334267.11:c.2205+87746G>A ENSP00000334021.7:n.2205+87746G>A
ENST00000375735.6:c.9231+12G>A ENSP00000364887.2:n.9231+12G>A
ENST00000398093.7:c.9231+12G>A ENSP00000381167.3:n.9231+12G>A
NM_001080463.1:c.9231+12G>A NP_001073932.1:n.9231+12G>A
NM_001377.2:c.9231+12G>A NP_001368.2:n.9231+12G>A
XM_006718903.2:c.9210+12G>A XP_006718966.1:n.9210+12G>A
XM_017018291.1:c.9231+12G>A XP_016873780.1:n.9231+12G>A
XM_017018292.1:c.8613+12G>A XP_016873781.1:n.8613+12G>A
NM_001377.3:c.9231+12G>A MANE Select NP_001368.2:n.9231+12G>A
NM_001080463.2:c.9231+12G>A MANE Plus Clinical NP_001073932.1:n.9231+12G>A