Canonical Allele Identifier: CA6254876
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103253278T>A , CM000673.2:g.103253278T>A GRCh38
NC_000011.9:g.103124007T>A , CM000673.1:g.103124007T>A GRCh37
NC_000011.8:g.102629217T>A NCBI36
NG_016423.1:g.148848T>A
NG_016423.2:g.148848T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.10064-7T>A MANE Plus Clinical ENSP00000497174.1:n.10064-7T>A
ENST00000375735.7:c.10043-7T>A MANE Select ENSP00000364887.2:n.10043-7T>A
ENST00000650373.1:c.10064-7T>A ENSP00000497174.1:n.10064-7T>A
ENST00000334267.11:c.2205+118859T>A ENSP00000334021.7:n.2205+118859T>A
ENST00000375735.6:c.10043-7T>A ENSP00000364887.2:n.10043-7T>A
ENST00000398093.7:c.10064-7T>A ENSP00000381167.3:n.10064-7T>A
NM_001080463.1:c.10064-7T>A NP_001073932.1:n.10064-7T>A
NM_001377.2:c.10043-7T>A NP_001368.2:n.10043-7T>A
XM_006718903.2:c.10022-7T>A XP_006718966.1:n.10022-7T>A
XM_017018291.1:c.10043-7T>A XP_016873780.1:n.10043-7T>A
XM_017018292.1:c.9425-7T>A XP_016873781.1:n.9425-7T>A
NM_001377.3:c.10043-7T>A MANE Select NP_001368.2:n.10043-7T>A
NM_001080463.2:c.10064-7T>A MANE Plus Clinical NP_001073932.1:n.10064-7T>A