Canonical Allele Identifier: CA382253927

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 2336092
• ClinVar RCV Id: RCV002930795
• dbSNP Id: rs1342095648
• gnomAD v2: 11-103060510-C-A
• gnomAD v4: 11-103189781-C-A
• MyVariant Identifiers: chr11:g.103060510C>A (hg19) ; chr11:g.103189781C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103189781C>A , CM000673.2:g.103189781C>A	GRCh38
NC_000011.9:g.103060510C>A , CM000673.1:g.103060510C>A	GRCh37
NC_000011.8:g.102565720C>A	NCBI36
NG_016423.1:g.85351C>A
NG_016423.2:g.85351C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.7402C>A MANE Plus Clinical	ENSP00000497174.1:p.Leu2468Ile
ENST00000375735.7:c.7402C>A MANE Select	ENSP00000364887.2:p.Leu2468Ile
ENST00000649323.1:c.*4947C>A	ENSP00000497581.1:n.*4947C>A
ENST00000650373.1:c.7402C>A	ENSP00000497174.1:p.Leu2468Ile
ENST00000334267.11:c.2205+55362C>A	ENSP00000334021.7:n.2205+55362C>A
ENST00000375735.6:c.7402C>A	ENSP00000364887.2:p.Leu2468Ile
ENST00000398093.7:c.7402C>A	ENSP00000381167.3:p.Leu2468Ile
NM_001080463.1:c.7402C>A	NP_001073932.1:p.Leu2468Ile
NM_001377.2:c.7402C>A	NP_001368.2:p.Leu2468Ile
XM_006718903.2:c.7402C>A	XP_006718966.1:p.Leu2468Ile
XM_017018291.1:c.7402C>A	XP_016873780.1:p.Leu2468Ile
XM_017018292.1:c.6784C>A	XP_016873781.1:p.Leu2262Ile
XM_017018293.1:c.7402C>A	XP_016873782.1:p.Leu2468Ile
NM_001377.3:c.7402C>A MANE Select	NP_001368.2:p.Leu2468Ile
NM_001080463.2:c.7402C>A MANE Plus Clinical	NP_001073932.1:p.Leu2468Ile