Canonical Allele Identifier: CA6255442
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103324005A>G , CM000673.2:g.103324005A>G GRCh38
NC_000011.9:g.103194733A>G , CM000673.1:g.103194733A>G GRCh37
NC_000011.8:g.102699943A>G NCBI36
NG_016423.1:g.219574A>G
NG_016423.2:g.219575A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.12060+15A>G MANE Plus Clinical ENSP00000497174.1:n.12060+15A>G
ENST00000375735.7:c.12039+15A>G MANE Select ENSP00000364887.2:n.12039+15A>G
ENST00000650373.1:c.12060+15A>G ENSP00000497174.1:n.12060+15A>G
ENST00000334267.11:c.2206-111938A>G ENSP00000334021.7:n.2206-111938A>G
ENST00000375735.6:c.12039+15A>G ENSP00000364887.2:n.12039+15A>G
ENST00000398093.7:c.12060+15A>G ENSP00000381167.3:n.12060+15A>G
ENST00000528670.5:c.1222+15A>G ENSP00000433451.1:n.1222+15A>G
NM_001080463.1:c.12060+15A>G NP_001073932.1:n.12060+15A>G
NM_001377.2:c.12039+15A>G NP_001368.2:n.12039+15A>G
XM_006718903.2:c.12018+15A>G XP_006718966.1:n.12018+15A>G
XM_017018291.1:c.12039+15A>G XP_016873780.1:n.12039+15A>G
XM_017018292.1:c.11421+15A>G XP_016873781.1:n.11421+15A>G
NM_001377.3:c.12039+15A>G MANE Select NP_001368.2:n.12039+15A>G
NM_001080463.2:c.12060+15A>G MANE Plus Clinical NP_001073932.1:n.12060+15A>G