Canonical Allele Identifier: CA351408668

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690694G>C (hg19) ; chr2:g.241751279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751279G>C , CM000664.2:g.241751279G>C	GRCh38
NC_000002.11:g.242690694G>C , CM000664.1:g.242690694G>C	GRCh37
NC_000002.10:g.242339367G>C	NCBI36
NG_012012.1:g.21665G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1031G>C MANE Select	ENSP00000315351.4:p.Gly344Ala
ENST00000321264.8:c.1031G>C	ENSP00000315351.4:p.Gly344Ala
ENST00000400769.6:c.854-4570G>C	ENSP00000383580.2:n.854-4570G>C
ENST00000403782.5:c.629G>C	ENSP00000384723.1:p.Gly210Ala
ENST00000432449.1:c.291G>C
ENST00000436747.5:c.*1347G>C	ENSP00000400212.1:n.*1347G>C
ENST00000454048.1:c.134G>C	ENSP00000404596.1:p.Gly45Ala
ENST00000467427.5:n.389+985G>C
ENST00000470343.5:n.512G>C
ENST00000473126.1:n.230G>C
ENST00000486953.5:n.163+985G>C
ENST00000496252.5:n.386G>C
NM_001287249.1:c.629G>C	NP_001274178.1:p.Gly210Ala
NM_152783.4:c.1031G>C	NP_689996.4:p.Gly344Ala
NR_109778.1:n.1063-4570G>C
XM_011511734.1:c.1109G>C	XP_011510036.1:p.Gly370Ala
XM_011511735.1:c.1109G>C	XP_011510037.1:p.Gly370Ala
XM_011511736.1:c.1031G>C	XP_011510038.1:p.Gly344Ala
XM_011511737.1:c.1109G>C	XP_011510039.1:p.Gly370Ala
XM_011511742.1:c.1246G>C	XP_011510044.1:p.Ala416Pro
XM_011511743.1:c.1246G>C	XP_011510045.1:p.Ala416Pro
XM_011511744.1:c.1246G>C	XP_011510046.1:p.Ala416Pro
XM_011511745.1:c.1109G>C	XP_011510047.1:p.Gly370Ala
XM_011511748.1:c.1180G>C	XP_011510050.1:p.Ala394Pro
XM_011511749.1:c.1179+985G>C	XP_011510051.1:n.1179+985G>C
XM_011511750.1:c.1109G>C	XP_011510052.1:p.Gly370Ala
XM_011511751.1:c.1212+700G>C	XP_011510053.1:n.1212+700G>C
XM_011511753.1:c.1075+985G>C	XP_011510055.1:n.1075+985G>C
XM_011511754.1:c.548G>C	XP_011510056.1:p.Gly183Ala
XM_011511755.1:c.539G>C	XP_011510057.1:p.Gly180Ala
XM_011511756.1:c.853+6402G>C	XP_011510058.1:n.853+6402G>C
XM_011511757.1:c.*47G>C	XP_011510059.1:n.*47G>C
XR_241434.3:n.1370G>C
XR_923003.1:n.1892G>C
XR_923004.1:n.1663G>C
XR_923005.1:n.1406G>C
XR_923006.1:n.1406G>C
XR_923007.1:n.1373G>C
XR_923008.1:n.1269G>C
XR_923009.1:n.1269G>C
XR_923010.1:n.1703G>C
XR_923011.1:n.1474G>C
XR_923012.1:n.1408G>C
XR_923014.1:n.1014-4570G>C
NM_001352824.1:c.470G>C	NP_001339753.1:p.Gly157Ala
XM_011511734.2:c.1109G>C	XP_011510036.1:p.Gly370Ala
XM_011511735.2:c.1109G>C	XP_011510037.1:p.Gly370Ala
XM_011511736.2:c.1031G>C	XP_011510038.1:p.Gly344Ala
XM_011511737.3:c.1109G>C	XP_011510039.1:p.Gly370Ala
XM_011511743.2:c.1246G>C	XP_011510045.1:p.Ala416Pro
XM_011511744.2:c.1246G>C	XP_011510046.1:p.Ala416Pro
XM_011511745.3:c.1109G>C	XP_011510047.1:p.Gly370Ala
XM_011511749.3:c.1179+985G>C	XP_011510051.1:n.1179+985G>C
XM_011511750.3:c.1109G>C	XP_011510052.1:p.Gly370Ala
XM_011511751.2:c.1212+700G>C	XP_011510053.1:n.1212+700G>C
XM_011511753.3:c.1075+985G>C	XP_011510055.1:n.1075+985G>C
XM_011511756.2:c.853+6402G>C	XP_011510058.1:n.853+6402G>C
XM_011511757.3:c.*47G>C	XP_011510059.1:n.*47G>C
XM_017004828.2:c.1031G>C	XP_016860317.1:p.Gly344Ala
XM_017004829.2:c.1246G>C	XP_016860318.1:p.Ala416Pro
XM_017004830.2:c.1109G>C	XP_016860319.1:p.Gly370Ala
XM_024453102.1:c.881G>C	XP_024308870.1:p.Gly294Ala
XR_001738918.2:n.1405G>C
XR_001738919.2:n.1339G>C
XR_002959334.1:n.1891G>C
XR_002959335.1:n.1535G>C
XR_241434.4:n.1369G>C
XR_923004.3:n.1662G>C
XR_923005.2:n.1405G>C
XR_923007.3:n.1372G>C
XR_923009.2:n.1268G>C
XR_923010.2:n.1702G>C
XR_923011.3:n.1473G>C
XR_923012.2:n.1407G>C
XR_923014.3:n.1013-4570G>C
NM_152783.5:c.1031G>C MANE Select	NP_689996.4:p.Gly344Ala
NM_001287249.2:c.629G>C	NP_001274178.1:p.Gly210Ala
NM_001352824.2:c.470G>C	NP_001339753.1:p.Gly157Ala
NR_109778.2:n.1012-4570G>C