Canonical Allele Identifier: CA210630
Gene: DYNC2H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195733
ClinVar RCV Id: RCV000176375 RCV000515897
dbSNP Id: rs755338872
gnomAD v2: 11-103025229-AG-A
gnomAD v3: 11-103154500-AG-A
gnomAD v4: 11-103154500-AG-A
MyVariant Identifiers: chr11:g.103025230del (hg19) chr11:g.103154501del (hg38)
PubMed: PMID:29068549
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103154501del , CM000673.2:g.103154501del GRCh38
NC_000011.9:g.103025230del , CM000673.1:g.103025230del GRCh37
NC_000011.8:g.102530440del NCBI36
NG_016423.1:g.50071del
NG_016423.2:g.50071del

Transcript Alleles

HGVS Amino-acid change
ENST00000650373.2:c.3353del MANE Plus Clinical ENSP00000497174.1:p.Ser1118IlefsTer?
ENST00000375735.7:c.3353del MANE Select ENSP00000364887.2:p.Ser1118IlefsTer?
ENST00000648198.1:c.3371del ENSP00000497329.1:p.Ser1124IlefsTer?
ENST00000649323.1:c.*810del ENSP00000497581.1:n.*810del
ENST00000650373.1:c.3353del ENSP00000497174.1:p.Ser1118IlefsTer?
ENST00000334267.11:c.2205+20082del ENSP00000334021.7:n.2205+20082del
ENST00000375735.6:c.3353del ENSP00000364887.2:p.Ser1118IlefsTer?
ENST00000398093.7:c.3353del ENSP00000381167.3:p.Ser1118IlefsTer?
NM_001080463.1:c.3353del NP_001073932.1:p.Ser1118IlefsTer?
NM_001377.2:c.3353del NP_001368.2:p.Ser1118IlefsTer?
XM_006718903.2:c.3353del XP_006718966.1:p.Ser1118IlefsTer?
XM_017018291.1:c.3353del XP_016873780.1:p.Ser1118IlefsTer?
XM_017018292.1:c.2735del XP_016873781.1:p.Ser912IlefsTer?
XM_017018293.1:c.3353del XP_016873782.1:p.Ser1118IlefsTer?
NM_001377.3:c.3353del MANE Select NP_001368.2:p.Ser1118IlefsTer?
NM_001080463.2:c.3353del MANE Plus Clinical NP_001073932.1:p.Ser1118IlefsTer?
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