Canonical Allele Identifier: CA6665364
Gene: DPY19L2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63580785T>C , CM000674.2:g.63580785T>C GRCh38
NC_000012.11:g.63974565T>C , CM000674.1:g.63974565T>C GRCh37
NC_000012.10:g.62260832T>C NCBI36
NG_031909.1:g.92790A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000324472.9:c.1777A>G MANE Select ENSP00000315988.4:p.Ile593Val
ENST00000324472.8:c.1777A>G ENSP00000315988.4:p.Ile593Val
ENST00000413230.6:n.523A>G
ENST00000439061.6:c.635+1621A>G
NM_173812.4:c.1777A>G NP_776173.3:p.Ile593Val
XM_006719348.2:c.1717A>G XP_006719411.1:p.Ile573Val
XM_006719350.2:c.1777A>G XP_006719413.1:p.Ile593Val
XM_006719352.1:c.1348A>G XP_006719415.1:p.Ile450Val
XM_006719353.2:c.1348A>G XP_006719416.1:p.Ile450Val
XM_006719355.2:c.1581-9928A>G XP_006719418.1:n.1581-9928A>G
XM_006719356.2:c.832A>G XP_006719419.1:p.Ile278Val
XM_011538215.1:c.1264A>G XP_011536517.1:p.Ile422Val
XM_011538218.1:c.766A>G XP_011536520.1:p.Ile256Val
XR_429092.2:n.1797-9928A>G
XR_944521.1:n.1993A>G
XM_006719352.2:c.1348A>G XP_006719415.1:p.Ile450Val
XM_011538215.2:c.1264A>G XP_011536517.1:p.Ile422Val
XM_011538218.3:c.766A>G XP_011536520.1:p.Ile256Val
XM_017019192.2:c.1627A>G XP_016874681.1:p.Ile543Val
XM_017019193.2:c.1474A>G XP_016874682.1:p.Ile492Val
XM_017019201.1:c.832A>G XP_016874690.1:p.Ile278Val
XM_017019203.2:c.772A>G XP_016874692.1:p.Ile258Val
XM_017019204.1:c.772A>G XP_016874693.1:p.Ile258Val
XM_024448944.1:c.1717A>G XP_024304712.1:p.Ile573Val
XM_024448945.1:c.1777A>G XP_024304713.1:p.Ile593Val
XM_024448946.1:c.1348A>G XP_024304714.1:p.Ile450Val
XM_024448947.1:c.1348A>G XP_024304715.1:p.Ile450Val
XM_024448948.1:c.1725+1621A>G XP_024304716.1:n.1725+1621A>G
XM_024448949.1:c.1581-9928A>G XP_024304717.1:n.1581-9928A>G
XR_001748666.2:n.9160A>G
XR_002957314.1:n.1929A>G
XR_002957315.1:n.1877+1621A>G
XR_002957316.1:n.1733-9928A>G
XR_002957317.1:n.9160A>G
XR_002957318.1:n.8405A>G
XR_002957319.1:n.9160A>G
NM_173812.5:c.1777A>G MANE Select NP_776173.3:p.Ile593Val