Canonical Allele Identifier: CA382242935
Gene: DYNC2H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2349857
ClinVar RCV Id: RCV002956827
dbSNP Id: rs1332581015

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103173205C>T , CM000673.2:g.103173205C>T GRCh38
NC_000011.9:g.103043934C>T , CM000673.1:g.103043934C>T GRCh37
NC_000011.8:g.102549144C>T NCBI36
NG_016423.1:g.68775C>T
NG_016423.2:g.68775C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.5458C>T MANE Plus Clinical ENSP00000497174.1:p.Pro1820Ser
ENST00000375735.7:c.5458C>T MANE Select ENSP00000364887.2:p.Pro1820Ser
ENST00000649323.1:c.*3003C>T ENSP00000497581.1:n.*3003C>T
ENST00000650373.1:c.5458C>T ENSP00000497174.1:p.Pro1820Ser
ENST00000334267.11:c.2205+38786C>T ENSP00000334021.7:n.2205+38786C>T
ENST00000375735.6:c.5458C>T ENSP00000364887.2:p.Pro1820Ser
ENST00000398093.7:c.5458C>T ENSP00000381167.3:p.Pro1820Ser
NM_001080463.1:c.5458C>T NP_001073932.1:p.Pro1820Ser
NM_001377.2:c.5458C>T NP_001368.2:p.Pro1820Ser
XM_006718903.2:c.5458C>T XP_006718966.1:p.Pro1820Ser
XM_017018291.1:c.5458C>T XP_016873780.1:p.Pro1820Ser
XM_017018292.1:c.4840C>T XP_016873781.1:p.Pro1614Ser
XM_017018293.1:c.5458C>T XP_016873782.1:p.Pro1820Ser
NM_001377.3:c.5458C>T MANE Select NP_001368.2:p.Pro1820Ser
NM_001080463.2:c.5458C>T MANE Plus Clinical NP_001073932.1:p.Pro1820Ser