Canonical Allele Identifier: CA210503
Gene: DYNC2H1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103245374G>T , CM000673.2:g.103245374G>T GRCh38
NC_000011.9:g.103116103G>T , CM000673.1:g.103116103G>T GRCh37
NC_000011.8:g.102621313G>T NCBI36
NG_016423.1:g.140944G>T
NG_016423.2:g.140944G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.10063G>T MANE Plus Clinical ENSP00000497174.1:p.Gly3355Ter
ENST00000375735.7:c.10042G>T MANE Select ENSP00000364887.2:p.Gly3348Ter
ENST00000650373.1:c.10063G>T ENSP00000497174.1:p.Gly3355Ter
ENST00000334267.11:c.2205+110955G>T ENSP00000334021.7:n.2205+110955G>T
ENST00000375735.6:c.10042G>T ENSP00000364887.2:p.Gly3348Ter
ENST00000398093.7:c.10063G>T ENSP00000381167.3:p.Gly3355Ter
NM_001080463.1:c.10063G>T NP_001073932.1:p.Gly3355Ter
NM_001377.2:c.10042G>T NP_001368.2:p.Gly3348Ter
XM_006718903.2:c.10021G>T XP_006718966.1:p.Gly3341Ter
XM_017018291.1:c.10042G>T XP_016873780.1:p.Gly3348Ter
XM_017018292.1:c.9424G>T XP_016873781.1:p.Gly3142Ter
NM_001377.3:c.10042G>T MANE Select NP_001368.2:p.Gly3348Ter
NM_001080463.2:c.10063G>T MANE Plus Clinical NP_001073932.1:p.Gly3355Ter