Canonical Allele Identifier: CA382243304
Gene: DYNC2H1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103173305G>T , CM000673.2:g.103173305G>T GRCh38
NC_000011.9:g.103044034G>T , CM000673.1:g.103044034G>T GRCh37
NC_000011.8:g.102549244G>T NCBI36
NG_016423.1:g.68875G>T
NG_016423.2:g.68875G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.5558G>T MANE Plus Clinical ENSP00000497174.1:p.Arg1853Met
ENST00000375735.7:c.5558G>T MANE Select ENSP00000364887.2:p.Arg1853Met
ENST00000649323.1:c.*3103G>T ENSP00000497581.1:n.*3103G>T
ENST00000650373.1:c.5558G>T ENSP00000497174.1:p.Arg1853Met
ENST00000334267.11:c.2205+38886G>T ENSP00000334021.7:n.2205+38886G>T
ENST00000375735.6:c.5558G>T ENSP00000364887.2:p.Arg1853Met
ENST00000398093.7:c.5558G>T ENSP00000381167.3:p.Arg1853Met
NM_001080463.1:c.5558G>T NP_001073932.1:p.Arg1853Met
NM_001377.2:c.5558G>T NP_001368.2:p.Arg1853Met
XM_006718903.2:c.5558G>T XP_006718966.1:p.Arg1853Met
XM_017018291.1:c.5558G>T XP_016873780.1:p.Arg1853Met
XM_017018292.1:c.4940G>T XP_016873781.1:p.Arg1647Met
XM_017018293.1:c.5558G>T XP_016873782.1:p.Arg1853Met
NM_001377.3:c.5558G>T MANE Select NP_001368.2:p.Arg1853Met
NM_001080463.2:c.5558G>T MANE Plus Clinical NP_001073932.1:p.Arg1853Met