Canonical Allele Identifier: CA115237
Gene: D2HGDH HGNC NCBI

Linked Data

ClinVar Variation Id: 1853
ClinVar RCV Id: RCV000001927
dbSNP Id: rs121434361
MyVariant Identifiers: chr2:g.242681939T>G (hg19) chr2:g.241742524T>G (hg38)
PubMed: PMID:7609436 PMID:15609246
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241742524T>G , CM000664.2:g.241742524T>G GRCh38
NC_000002.11:g.242681939T>G , CM000664.1:g.242681939T>G GRCh37
NC_000002.10:g.242330612T>G NCBI36
NG_012012.1:g.12910T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000321264.9:c.440T>G MANE Select ENSP00000315351.4:p.Ile147Ser
ENST00000321264.8:c.440T>G ENSP00000315351.4:p.Ile147Ser
ENST00000400769.6:c.440T>G ENSP00000383580.2:p.Ile147Ser
ENST00000403782.5:c.38T>G ENSP00000384723.1:p.Ile13Ser
ENST00000436747.5:c.440T>G ENSP00000400212.1:p.Ile147Ser
ENST00000437164.1:c.92T>G ENSP00000412511.1:p.Ile31Ser
ENST00000454048.1:c.50T>G ENSP00000404596.1:p.Ile17Ser
NM_001287249.1:c.38T>G NP_001274178.1:p.Ile13Ser
NM_152783.4:c.440T>G NP_689996.4:p.Ile147Ser
NR_109778.1:n.649T>G
XM_011511734.1:c.440T>G XP_011510036.1:p.Ile147Ser
XM_011511735.1:c.440T>G XP_011510037.1:p.Ile147Ser
XM_011511736.1:c.440T>G XP_011510038.1:p.Ile147Ser
XM_011511737.1:c.440T>G XP_011510039.1:p.Ile147Ser
XM_011511738.1:c.440T>G XP_011510040.1:p.Ile147Ser
XM_011511739.1:c.440T>G XP_011510041.1:p.Ile147Ser
XM_011511740.1:c.440T>G XP_011510042.1:p.Ile147Ser
XM_011511741.1:c.440T>G XP_011510043.1:p.Ile147Ser
XM_011511742.1:c.440T>G XP_011510044.1:p.Ile147Ser
XM_011511743.1:c.440T>G XP_011510045.1:p.Ile147Ser
XM_011511744.1:c.440T>G XP_011510046.1:p.Ile147Ser
XM_011511745.1:c.440T>G XP_011510047.1:p.Ile147Ser
XM_011511746.1:c.440T>G XP_011510048.1:p.Ile147Ser
XM_011511747.1:c.440T>G XP_011510049.1:p.Ile147Ser
XM_011511748.1:c.440T>G XP_011510050.1:p.Ile147Ser
XM_011511749.1:c.440T>G XP_011510051.1:p.Ile147Ser
XM_011511750.1:c.440T>G XP_011510052.1:p.Ile147Ser
XM_011511751.1:c.440T>G XP_011510053.1:p.Ile147Ser
XM_011511752.1:c.440T>G XP_011510054.1:p.Ile147Ser
XM_011511753.1:c.440T>G XP_011510055.1:p.Ile147Ser
XM_011511754.1:c.-105T>G XP_011510056.1:n.-105T>G
XM_011511756.1:c.440T>G XP_011510058.1:p.Ile147Ser
XM_011511757.1:c.440T>G XP_011510059.1:p.Ile147Ser
XM_011511758.1:c.440T>G XP_011510060.1:p.Ile147Ser
XM_011511759.1:c.440T>G XP_011510061.1:p.Ile147Ser
XM_011511760.1:c.440T>G XP_011510062.1:p.Ile147Ser
XR_241434.3:n.600T>G
XR_923003.1:n.600T>G
XR_923004.1:n.600T>G
XR_923005.1:n.600T>G
XR_923006.1:n.600T>G
XR_923007.1:n.600T>G
XR_923008.1:n.600T>G
XR_923009.1:n.600T>G
XR_923010.1:n.600T>G
XR_923011.1:n.600T>G
XR_923012.1:n.600T>G
XR_923013.1:n.600T>G
XR_923014.1:n.600T>G
XR_923015.1:n.600T>G
XR_923016.1:n.600T>G
NM_001352824.1:c.-105T>G NP_001339753.1:n.-105T>G
XM_011511734.2:c.440T>G XP_011510036.1:p.Ile147Ser
XM_011511735.2:c.440T>G XP_011510037.1:p.Ile147Ser
XM_011511736.2:c.440T>G XP_011510038.1:p.Ile147Ser
XM_011511737.3:c.440T>G XP_011510039.1:p.Ile147Ser
XM_011511738.3:c.440T>G XP_011510040.1:p.Ile147Ser
XM_011511739.2:c.440T>G XP_011510041.1:p.Ile147Ser
XM_011511740.3:c.440T>G XP_011510042.1:p.Ile147Ser
XM_011511741.3:c.440T>G XP_011510043.1:p.Ile147Ser
XM_011511743.2:c.440T>G XP_011510045.1:p.Ile147Ser
XM_011511744.2:c.440T>G XP_011510046.1:p.Ile147Ser
XM_011511745.3:c.440T>G XP_011510047.1:p.Ile147Ser
XM_011511746.3:c.440T>G XP_011510048.1:p.Ile147Ser
XM_011511747.3:c.440T>G XP_011510049.1:p.Ile147Ser
XM_011511749.3:c.440T>G XP_011510051.1:p.Ile147Ser
XM_011511750.3:c.440T>G XP_011510052.1:p.Ile147Ser
XM_011511751.2:c.440T>G XP_011510053.1:p.Ile147Ser
XM_011511752.2:c.440T>G XP_011510054.1:p.Ile147Ser
XM_011511753.3:c.440T>G XP_011510055.1:p.Ile147Ser
XM_011511756.2:c.440T>G XP_011510058.1:p.Ile147Ser
XM_011511757.3:c.440T>G XP_011510059.1:p.Ile147Ser
XM_011511758.3:c.440T>G XP_011510060.1:p.Ile147Ser
XM_011511759.3:c.440T>G XP_011510061.1:p.Ile147Ser
XM_011511760.3:c.440T>G XP_011510062.1:p.Ile147Ser
XM_017004827.2:c.440T>G XP_016860316.1:p.Ile147Ser
XM_017004828.2:c.440T>G XP_016860317.1:p.Ile147Ser
XM_017004829.2:c.440T>G XP_016860318.1:p.Ile147Ser
XM_017004830.2:c.440T>G XP_016860319.1:p.Ile147Ser
XM_017004832.2:c.440T>G XP_016860321.1:p.Ile147Ser
XM_024453102.1:c.212T>G XP_024308870.1:p.Ile71Ser
XM_024453103.1:c.440T>G XP_024308871.1:p.Ile147Ser
XR_001738918.2:n.599T>G
XR_001738919.2:n.599T>G
XR_002959334.1:n.599T>G
XR_002959335.1:n.599T>G
XR_241434.4:n.599T>G
XR_923004.3:n.599T>G
XR_923005.2:n.599T>G
XR_923007.3:n.599T>G
XR_923009.2:n.599T>G
XR_923010.2:n.599T>G
XR_923011.3:n.599T>G
XR_923012.2:n.599T>G
XR_923013.2:n.599T>G
XR_923014.3:n.599T>G
XR_923015.2:n.599T>G
XR_923016.3:n.599T>G
NM_152783.5:c.440T>G MANE Select NP_689996.4:p.Ile147Ser
NM_001287249.2:c.38T>G NP_001274178.1:p.Ile13Ser
NM_001352824.2:c.-105T>G NP_001339753.1:n.-105T>G
NR_109778.2:n.598T>G
Search 100 bp 5'
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