Canonical Allele Identifier: CA350533
Gene: DYNC2H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219478
ClinVar RCV Id: RCV000206518 RCV000414269
dbSNP Id: rs864622111
gnomAD v2: 11-103114420-A-G
gnomAD v3: 11-103243691-A-G
gnomAD v4: 11-103243691-A-G
MyVariant Identifiers: chr11:g.103114420A>G (hg19) chr11:g.103243691A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103243691A>G , CM000673.2:g.103243691A>G GRCh38
NC_000011.9:g.103114420A>G , CM000673.1:g.103114420A>G GRCh37
NC_000011.8:g.102619630A>G NCBI36
NG_016423.1:g.139261A>G
NG_016423.2:g.139261A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650373.2:c.9841-2A>G MANE Plus Clinical ENSP00000497174.1:n.9841-2A>G
ENST00000375735.7:c.9820-2A>G MANE Select ENSP00000364887.2:n.9820-2A>G
ENST00000650373.1:c.9841-2A>G ENSP00000497174.1:n.9841-2A>G
ENST00000334267.11:c.2205+109272A>G ENSP00000334021.7:n.2205+109272A>G
ENST00000375735.6:c.9820-2A>G ENSP00000364887.2:n.9820-2A>G
ENST00000398093.7:c.9841-2A>G ENSP00000381167.3:n.9841-2A>G
NM_001080463.1:c.9841-2A>G NP_001073932.1:n.9841-2A>G
NM_001377.2:c.9820-2A>G NP_001368.2:n.9820-2A>G
XM_006718903.2:c.9799-2A>G XP_006718966.1:n.9799-2A>G
XM_017018291.1:c.9820-2A>G XP_016873780.1:n.9820-2A>G
XM_017018292.1:c.9202-2A>G XP_016873781.1:n.9202-2A>G
NM_001377.3:c.9820-2A>G MANE Select NP_001368.2:n.9820-2A>G
NM_001080463.2:c.9841-2A>G MANE Plus Clinical NP_001073932.1:n.9841-2A>G
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