Canonical Allele Identifier: CA891843443

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 579877
• ClinVar RCV Id: RCV000703265
• dbSNP Id: rs1559404382
• gnomAD v4: 2-241767752-GC-G
• MyVariant Identifiers: chr2:g.242707171del (hg19) ; chr2:g.241767756del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767756del , CM000664.2:g.241767756del	GRCh38
NC_000002.11:g.242707171del , CM000664.1:g.242707171del	GRCh37
NC_000002.10:g.242355844del	NCBI36
NG_012012.1:g.38142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1353del MANE Select	ENSP00000315351.4:p.Ser452ArgfsTer?
ENST00000321264.8:c.1353del	ENSP00000315351.4:p.Ser452ArgfsTer?
ENST00000400769.6:c.*103del	ENSP00000383580.2:n.*103del
ENST00000403782.5:c.951del	ENSP00000384723.1:p.Ser318ArgfsTer?
ENST00000436747.5:c.*2589del	ENSP00000400212.1:n.*2589del
ENST00000445308.1:c.749del
ENST00000468064.5:n.1243del
ENST00000470343.5:n.834del
ENST00000473126.1:n.552del
ENST00000486953.5:n.1177del
ENST00000610344.1:c.*197del	ENSP00000481906.1:n.*197del
NM_001287249.1:c.951del	NP_001274178.1:p.Ser318ArgfsTer?
NM_152783.4:c.1353del	NP_689996.4:p.Ser452ArgfsTer?
NR_109778.1:n.1275del
XM_011511734.1:c.1473del	XP_011510036.1:p.Ser492ArgfsTer?
XM_011511735.1:c.1431del	XP_011510037.1:p.Ser478ArgfsTer?
XM_011511736.1:c.1395del	XP_011510038.1:p.Ser466ArgfsTer?
XM_011511744.1:c.*85del	XP_011510046.1:n.*85del
XM_011511750.1:c.*20del	XP_011510052.1:n.*20del
XM_011511754.1:c.912del	XP_011510056.1:p.Ser305ArgfsTer?
XM_011511755.1:c.903del	XP_011510057.1:p.Ser302ArgfsTer?
XM_011511756.1:c.900del	XP_011510058.1:p.Ser301ArgfsTer?
XR_923004.1:n.1985del
XR_923007.1:n.1695del
XR_923011.1:n.1796del
NM_001352824.1:c.792del	NP_001339753.1:p.Ser265ArgfsTer?
XM_011511734.2:c.1473del	XP_011510036.1:p.Ser492ArgfsTer?
XM_011511735.2:c.1431del	XP_011510037.1:p.Ser478ArgfsTer?
XM_011511736.2:c.1395del	XP_011510038.1:p.Ser466ArgfsTer?
XM_011511744.2:c.*85del	XP_011510046.1:n.*85del
XM_011511750.3:c.*20del	XP_011510052.1:n.*20del
XM_011511756.2:c.900del	XP_011510058.1:p.Ser301ArgfsTer?
XM_024453102.1:c.1245del	XP_024308870.1:p.Ser416ArgfsTer?
XR_001738918.2:n.1727del
XR_001738919.2:n.1661del
XR_923004.3:n.1984del
XR_923007.3:n.1694del
XR_923011.3:n.1795del
NM_152783.5:c.1353del MANE Select	NP_689996.4:p.Ser452ArgfsTer?
NM_001287249.2:c.951del	NP_001274178.1:p.Ser318ArgfsTer?
NM_001352824.2:c.792del	NP_001339753.1:p.Ser265ArgfsTer?
NR_109778.2:n.1224del