Canonical Allele Identifier: CA382254873

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 1519977
• ClinVar RCV Id: RCV002038470
• dbSNP Id: rs1858922505
• MyVariant Identifiers: chr11:g.102995831T>G (hg19) ; chr11:g.103125102T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103125102T>G , CM000673.2:g.103125102T>G	GRCh38
NC_000011.9:g.102995831T>G , CM000673.1:g.102995831T>G	GRCh37
NC_000011.8:g.102501041T>G	NCBI36
NG_016423.1:g.20672T>G
NG_016423.2:g.20672T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650373.2:c.1664T>G MANE Plus Clinical	ENSP00000497174.1:p.Ile555Ser
ENST00000375735.7:c.1664T>G MANE Select	ENSP00000364887.2:p.Ile555Ser
ENST00000648198.1:c.1664T>G	ENSP00000497329.1:p.Ile555Ser
ENST00000649323.1:c.1664T>G	ENSP00000497581.1:p.Ile555Ser
ENST00000650373.1:c.1664T>G	ENSP00000497174.1:p.Ile555Ser
ENST00000334267.11:c.1664T>G	ENSP00000334021.7:p.Ile555Ser
ENST00000375735.6:c.1664T>G	ENSP00000364887.2:p.Ile555Ser
ENST00000398093.7:c.1664T>G	ENSP00000381167.3:p.Ile555Ser
NM_001080463.1:c.1664T>G	NP_001073932.1:p.Ile555Ser
NM_001377.2:c.1664T>G	NP_001368.2:p.Ile555Ser
XM_006718903.2:c.1664T>G	XP_006718966.1:p.Ile555Ser
XM_017018291.1:c.1664T>G	XP_016873780.1:p.Ile555Ser
XM_017018292.1:c.1046T>G	XP_016873781.1:p.Ile349Ser
XM_017018293.1:c.1664T>G	XP_016873782.1:p.Ile555Ser
NM_001377.3:c.1664T>G MANE Select	NP_001368.2:p.Ile555Ser
NM_001080463.2:c.1664T>G MANE Plus Clinical	NP_001073932.1:p.Ile555Ser