Canonical Allele Identifier: CA10582779

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 238274
• ClinVar RCV Id: RCV000225873
• dbSNP Id: rs878854167
• MyVariant Identifiers: chr11:g.103062303C>G (hg19) ; chr11:g.103191574C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103191574C>G , CM000673.2:g.103191574C>G	GRCh38
NC_000011.9:g.103062303C>G , CM000673.1:g.103062303C>G	GRCh37
NC_000011.8:g.102567513C>G	NCBI36
NG_016423.1:g.87144C>G
NG_016423.2:g.87144C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650373.2:c.7495C>G MANE Plus Clinical	ENSP00000497174.1:p.Leu2499Val
ENST00000375735.7:c.7495C>G MANE Select	ENSP00000364887.2:p.Leu2499Val
ENST00000649323.1:c.*5040C>G	ENSP00000497581.1:n.*5040C>G
ENST00000650373.1:c.7495C>G	ENSP00000497174.1:p.Leu2499Val
ENST00000334267.11:c.2205+57155C>G	ENSP00000334021.7:n.2205+57155C>G
ENST00000375735.6:c.7495C>G	ENSP00000364887.2:p.Leu2499Val
ENST00000398093.7:c.7495C>G	ENSP00000381167.3:p.Leu2499Val
NM_001080463.1:c.7495C>G	NP_001073932.1:p.Leu2499Val
NM_001377.2:c.7495C>G	NP_001368.2:p.Leu2499Val
XM_006718903.2:c.7495C>G	XP_006718966.1:p.Leu2499Val
XM_017018291.1:c.7495C>G	XP_016873780.1:p.Leu2499Val
XM_017018292.1:c.6877C>G	XP_016873781.1:p.Leu2293Val
XM_017018293.1:c.7438-523C>G	XP_016873782.1:n.7438-523C>G
NM_001377.3:c.7495C>G MANE Select	NP_001368.2:p.Leu2499Val
NM_001080463.2:c.7495C>G MANE Plus Clinical	NP_001073932.1:p.Leu2499Val