Canonical Allele Identifier: CA210635
Gene: DYNC2H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199053
dbSNP Id: rs780539887

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103121038del , CM000673.2:g.103121038del GRCh38
NC_000011.9:g.102991767del , CM000673.1:g.102991767del GRCh37
NC_000011.8:g.102496977del NCBI36
NG_016423.1:g.16608del
NG_016423.2:g.16608del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.1360+2del MANE Plus Clinical ENSP00000497174.1:n.1360+2del
ENST00000375735.7:c.1360+2del MANE Select ENSP00000364887.2:n.1360+2del
ENST00000648198.1:c.1360+2del ENSP00000497329.1:n.1360+2del
ENST00000649323.1:c.1360+2del ENSP00000497581.1:n.1360+2del
ENST00000650373.1:c.1360+2del ENSP00000497174.1:n.1360+2del
ENST00000334267.11:c.1360+2del ENSP00000334021.7:n.1360+2del
ENST00000375735.6:c.1360+2del ENSP00000364887.2:n.1360+2del
ENST00000398093.7:c.1360+2del ENSP00000381167.3:n.1360+2del
NM_001080463.1:c.1360+2del NP_001073932.1:n.1360+2del
NM_001377.2:c.1360+2del NP_001368.2:n.1360+2del
XM_006718903.2:c.1360+2del XP_006718966.1:n.1360+2del
XM_017018291.1:c.1360+2del XP_016873780.1:n.1360+2del
XM_017018292.1:c.742+2del XP_016873781.1:n.742+2del
XM_017018293.1:c.1360+2del XP_016873782.1:n.1360+2del
NM_001377.3:c.1360+2del MANE Select NP_001368.2:n.1360+2del
NM_001080463.2:c.1360+2del MANE Plus Clinical NP_001073932.1:n.1360+2del