Canonical Allele Identifier: CA6255559
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103436039C>T , CM000673.2:g.103436039C>T GRCh38
NC_000011.9:g.103306767C>T , CM000673.1:g.103306767C>T GRCh37
NC_000011.8:g.102811977C>T NCBI36
NG_016423.1:g.331608C>T
NG_016423.2:g.331609C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.12477+7C>T MANE Plus Clinical ENSP00000497174.1:n.12477+7C>T
ENST00000375735.7:c.12456+7C>T MANE Select ENSP00000364887.2:n.12456+7C>T
ENST00000650373.1:c.12477+7C>T ENSP00000497174.1:n.12477+7C>T
ENST00000334267.11:c.2295+7C>T ENSP00000334021.7:n.2295+7C>T
ENST00000375735.6:c.12456+7C>T ENSP00000364887.2:n.12456+7C>T
ENST00000398093.7:c.12477+7C>T ENSP00000381167.3:n.12477+7C>T
ENST00000528670.5:c.1639+7C>T ENSP00000433451.1:n.1639+7C>T
ENST00000533197.1:c.207+7C>T ENSP00000436736.1:n.207+7C>T
NM_001080463.1:c.12477+7C>T NP_001073932.1:n.12477+7C>T
NM_001377.2:c.12456+7C>T NP_001368.2:n.12456+7C>T
XM_006718903.2:c.12435+7C>T XP_006718966.1:n.12435+7C>T
XM_017018291.1:c.12246+7C>T XP_016873780.1:n.12246+7C>T
XM_017018292.1:c.11838+7C>T XP_016873781.1:n.11838+7C>T
NM_001377.3:c.12456+7C>T MANE Select NP_001368.2:n.12456+7C>T
NM_001080463.2:c.12477+7C>T MANE Plus Clinical NP_001073932.1:n.12477+7C>T