Canonical Allele Identifier: CA2832548517
Gene: D2HGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767881_241767883dup , CM000664.2:g.241767881_241767883dup GRCh38
NC_000002.11:g.242707296_242707298dup , CM000664.1:g.242707296_242707298dup GRCh37
NC_000002.10:g.242355969_242355971dup NCBI36
NG_012012.1:g.38267_38269dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1478_1480dup MANE Select ENSP00000315351.4:p.Gly493_Ala494insGly
ENST00000321264.8:c.1478_1480dup ENSP00000315351.4:p.Gly493_Ala494insGly
ENST00000400769.6:c.*228_*230dup ENSP00000383580.2:n.*228_*230dup
ENST00000403782.5:c.1076_1078dup ENSP00000384723.1:p.Gly359_Ala360insGly
ENST00000436747.5:c.*2714_*2716dup ENSP00000400212.1:n.*2714_*2716dup
ENST00000445308.1:c.874_876dup
ENST00000468064.5:n.1368_1370dup
ENST00000470343.5:n.959_961dup
ENST00000473126.1:n.677_679dup
ENST00000486953.5:n.1302_1304dup
ENST00000610344.1:c.*322_*324dup ENSP00000481906.1:n.*322_*324dup
NM_001287249.1:c.1076_1078dup NP_001274178.1:p.Gly359_Ala360insGly
NM_152783.4:c.1478_1480dup NP_689996.4:p.Gly493_Ala494insGly
NR_109778.1:n.1400_1402dup
XM_011511734.1:c.1598_1600dup XP_011510036.1:p.Gly533_Ala534insGly
XM_011511735.1:c.1556_1558dup XP_011510037.1:p.Gly519_Ala520insGly
XM_011511736.1:c.1520_1522dup XP_011510038.1:p.Gly507_Ala508insGly
XM_011511754.1:c.1037_1039dup XP_011510056.1:p.Gly346_Ala347insGly
XM_011511755.1:c.1028_1030dup XP_011510057.1:p.Gly343_Ala344insGly
XM_011511756.1:c.1025_1027dup XP_011510058.1:p.Gly342_Ala343insGly
XR_923004.1:n.2110_2112dup
XR_923007.1:n.1820_1822dup
XR_923011.1:n.1921_1923dup
NM_001352824.1:c.917_919dup NP_001339753.1:p.Gly306_Ala307insGly
XM_011511734.2:c.1598_1600dup XP_011510036.1:p.Gly533_Ala534insGly
XM_011511735.2:c.1556_1558dup XP_011510037.1:p.Gly519_Ala520insGly
XM_011511736.2:c.1520_1522dup XP_011510038.1:p.Gly507_Ala508insGly
XM_011511756.2:c.1025_1027dup XP_011510058.1:p.Gly342_Ala343insGly
XM_024453102.1:c.1370_1372dup XP_024308870.1:p.Gly457_Ala458insGly
XR_001738918.2:n.1852_1854dup
XR_001738919.2:n.1786_1788dup
XR_923004.3:n.2109_2111dup
XR_923007.3:n.1819_1821dup
XR_923011.3:n.1920_1922dup
NM_152783.5:c.1478_1480dup MANE Select NP_689996.4:p.Gly493_Ala494insGly
NM_001287249.2:c.1076_1078dup NP_001274178.1:p.Gly359_Ala360insGly
NM_001352824.2:c.917_919dup NP_001339753.1:p.Gly306_Ala307insGly
NR_109778.2:n.1349_1351dup