Canonical Allele Identifier: CA6255093
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103283071G>A , CM000673.2:g.103283071G>A GRCh38
NC_000011.9:g.103153800G>A , CM000673.1:g.103153800G>A GRCh37
NC_000011.8:g.102659010G>A NCBI36
NG_016423.1:g.178641G>A
NG_016423.2:g.178641G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.10897G>A MANE Plus Clinical ENSP00000497174.1:p.Val3633Met
ENST00000375735.7:c.10876G>A MANE Select ENSP00000364887.2:p.Val3626Met
ENST00000650373.1:c.10897G>A ENSP00000497174.1:p.Val3633Met
ENST00000334267.11:c.2205+148652G>A ENSP00000334021.7:n.2205+148652G>A
ENST00000375735.6:c.10876G>A ENSP00000364887.2:p.Val3626Met
ENST00000398093.7:c.10897G>A ENSP00000381167.3:p.Val3633Met
ENST00000525306.1:n.137G>A
ENST00000528670.5:c.55G>A ENSP00000433451.1:p.Val19Met
NM_001080463.1:c.10897G>A NP_001073932.1:p.Val3633Met
NM_001377.2:c.10876G>A NP_001368.2:p.Val3626Met
XM_006718903.2:c.10855G>A XP_006718966.1:p.Val3619Met
XM_017018291.1:c.10876G>A XP_016873780.1:p.Val3626Met
XM_017018292.1:c.10258G>A XP_016873781.1:p.Val3420Met
NM_001377.3:c.10876G>A MANE Select NP_001368.2:p.Val3626Met
NM_001080463.2:c.10897G>A MANE Plus Clinical NP_001073932.1:p.Val3633Met