Canonical Allele Identifier: CA382242724
Gene: DYNC2H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 528901
ClinVar RCV Id: RCV000634184
dbSNP Id: rs1555056136

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103173146G>A , CM000673.2:g.103173146G>A GRCh38
NC_000011.9:g.103043875G>A , CM000673.1:g.103043875G>A GRCh37
NC_000011.8:g.102549085G>A NCBI36
NG_016423.1:g.68716G>A
NG_016423.2:g.68716G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.5399G>A MANE Plus Clinical ENSP00000497174.1:p.Gly1800Glu
ENST00000375735.7:c.5399G>A MANE Select ENSP00000364887.2:p.Gly1800Glu
ENST00000649323.1:c.*2944G>A ENSP00000497581.1:n.*2944G>A
ENST00000650373.1:c.5399G>A ENSP00000497174.1:p.Gly1800Glu
ENST00000334267.11:c.2205+38727G>A ENSP00000334021.7:n.2205+38727G>A
ENST00000375735.6:c.5399G>A ENSP00000364887.2:p.Gly1800Glu
ENST00000398093.7:c.5399G>A ENSP00000381167.3:p.Gly1800Glu
NM_001080463.1:c.5399G>A NP_001073932.1:p.Gly1800Glu
NM_001377.2:c.5399G>A NP_001368.2:p.Gly1800Glu
XM_006718903.2:c.5399G>A XP_006718966.1:p.Gly1800Glu
XM_017018291.1:c.5399G>A XP_016873780.1:p.Gly1800Glu
XM_017018292.1:c.4781G>A XP_016873781.1:p.Gly1594Glu
XM_017018293.1:c.5399G>A XP_016873782.1:p.Gly1800Glu
NM_001377.3:c.5399G>A MANE Select NP_001368.2:p.Gly1800Glu
NM_001080463.2:c.5399G>A MANE Plus Clinical NP_001073932.1:p.Gly1800Glu