Canonical Allele Identifier: CA382253928

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 975903
• ClinVar RCV Id: RCV001253036
• dbSNP Id: rs1342095648
• MyVariant Identifiers: chr11:g.103060510C>G (hg19) ; chr11:g.103189781C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.7402C>G MANE Plus Clinical	ENSP00000497174.1:p.Leu2468Val
ENST00000375735.7:c.7402C>G MANE Select	ENSP00000364887.2:p.Leu2468Val
ENST00000649323.1:c.*4947C>G	ENSP00000497581.1:n.*4947C>G
ENST00000650373.1:c.7402C>G	ENSP00000497174.1:p.Leu2468Val
ENST00000334267.11:c.2205+55362C>G	ENSP00000334021.7:n.2205+55362C>G
ENST00000375735.6:c.7402C>G	ENSP00000364887.2:p.Leu2468Val
ENST00000398093.7:c.7402C>G	ENSP00000381167.3:p.Leu2468Val
NM_001080463.1:c.7402C>G	NP_001073932.1:p.Leu2468Val
NM_001377.2:c.7402C>G	NP_001368.2:p.Leu2468Val
XM_006718903.2:c.7402C>G	XP_006718966.1:p.Leu2468Val
XM_017018291.1:c.7402C>G	XP_016873780.1:p.Leu2468Val
XM_017018292.1:c.6784C>G	XP_016873781.1:p.Leu2262Val
XM_017018293.1:c.7402C>G	XP_016873782.1:p.Leu2468Val
NM_001377.3:c.7402C>G MANE Select	NP_001368.2:p.Leu2468Val
NM_001080463.2:c.7402C>G MANE Plus Clinical	NP_001073932.1:p.Leu2468Val