Canonical Allele Identifier: CA210516
Gene: DYNC2H1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6512
ClinVar RCV Id: RCV000006885
dbSNP Id: rs137853034

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103189761G>T , CM000673.2:g.103189761G>T GRCh38
NC_000011.8:g.102565700G>T NCBI36
NC_000011.9:g.103060490G>T , CM000673.1:g.103060490G>T GRCh37
NG_016423.1:g.85331G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000334267.11:c.2205+55342G>T ENSP00000334021.7:p.=
ENST00000375735.6:c.7382G>T ENSP00000364887.2:p.Gly2461Val
ENST00000398093.7:n.7382G>T ENSP00000381167.3:p.Gly2461Val
NM_001080463.1:c.7382G>T VV NP_001073932.1:p.Gly2461Val
NM_001377.2:c.7382G>T VV NP_001368.2:p.Gly2461Val
XM_006718903.2:c.7382G>T XP_006718966.1:p.Gly2461Val