Canonical Allele Identifier: CA1339784319
Gene: D2HGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767752_241767753delinsGC , CM000664.2:g.241767752_241767753delinsGC GRCh38
NC_000002.11:g.242707167_242707168delinsGC , CM000664.1:g.242707167_242707168delinsGC GRCh37
NC_000002.10:g.242355840_242355841delinsGC NCBI36
NG_012012.1:g.38138_38139delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1349_1350delinsGC MANE Select ENSP00000315351.4:p.Ser450=
ENST00000321264.8:c.1349_1350delinsGC ENSP00000315351.4:p.Ser450=
ENST00000400769.6:c.*99_*100delinsGC ENSP00000383580.2:n.*99_*100delinsGC
ENST00000403782.5:c.947_948delinsGC ENSP00000384723.1:p.Ser316=
ENST00000436747.5:c.*2585_*2586delinsGC ENSP00000400212.1:n.*2585_*2586delinsGC
ENST00000445308.1:c.745_746delinsGC
ENST00000468064.5:n.1239_1240delinsGC
ENST00000470343.5:n.830_831delinsGC
ENST00000473126.1:n.548_549delinsGC
ENST00000486953.5:n.1173_1174delinsGC
ENST00000610344.1:c.*193_*194delinsGC ENSP00000481906.1:n.*193_*194delinsGC
NM_001287249.1:c.947_948delinsGC NP_001274178.1:p.Ser316=
NM_152783.4:c.1349_1350delinsGC NP_689996.4:p.Ser450=
NR_109778.1:n.1271_1272delinsGC
XM_011511734.1:c.1469_1470delinsGC XP_011510036.1:p.Ser490=
XM_011511735.1:c.1427_1428delinsGC XP_011510037.1:p.Ser476=
XM_011511736.1:c.1391_1392delinsGC XP_011510038.1:p.Ser464=
XM_011511744.1:c.*81_*82delinsGC XP_011510046.1:n.*81_*82delinsGC
XM_011511750.1:c.*16_*17delinsGC XP_011510052.1:n.*16_*17delinsGC
XM_011511754.1:c.908_909delinsGC XP_011510056.1:p.Ser303=
XM_011511755.1:c.899_900delinsGC XP_011510057.1:p.Ser300=
XM_011511756.1:c.896_897delinsGC XP_011510058.1:p.Ser299=
XR_923004.1:n.1981_1982delinsGC
XR_923007.1:n.1691_1692delinsGC
XR_923011.1:n.1792_1793delinsGC
NM_001352824.1:c.788_789delinsGC NP_001339753.1:p.Ser263=
XM_011511734.2:c.1469_1470delinsGC XP_011510036.1:p.Ser490=
XM_011511735.2:c.1427_1428delinsGC XP_011510037.1:p.Ser476=
XM_011511736.2:c.1391_1392delinsGC XP_011510038.1:p.Ser464=
XM_011511744.2:c.*81_*82delinsGC XP_011510046.1:n.*81_*82delinsGC
XM_011511750.3:c.*16_*17delinsGC XP_011510052.1:n.*16_*17delinsGC
XM_011511756.2:c.896_897delinsGC XP_011510058.1:p.Ser299=
XM_024453102.1:c.1241_1242delinsGC XP_024308870.1:p.Ser414=
XR_001738918.2:n.1723_1724delinsGC
XR_001738919.2:n.1657_1658delinsGC
XR_923004.3:n.1980_1981delinsGC
XR_923007.3:n.1690_1691delinsGC
XR_923011.3:n.1791_1792delinsGC
NM_152783.5:c.1349_1350delinsGC MANE Select NP_689996.4:p.Ser450=
NM_001287249.2:c.947_948delinsGC NP_001274178.1:p.Ser316=
NM_001352824.2:c.788_789delinsGC NP_001339753.1:p.Ser263=
NR_109778.2:n.1220_1221delinsGC