Canonical Allele Identifier: CA351408833

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690777A>T (hg19) ; chr2:g.241751362A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751362A>T , CM000664.2:g.241751362A>T	GRCh38
NC_000002.11:g.242690777A>T , CM000664.1:g.242690777A>T	GRCh37
NC_000002.10:g.242339450A>T	NCBI36
NG_012012.1:g.21748A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1114A>T MANE Select	ENSP00000315351.4:p.Met372Leu
ENST00000321264.8:c.1114A>T	ENSP00000315351.4:p.Met372Leu
ENST00000400769.6:c.854-4487A>T	ENSP00000383580.2:n.854-4487A>T
ENST00000403782.5:c.712A>T	ENSP00000384723.1:p.Met238Leu
ENST00000432449.1:c.374A>T
ENST00000436747.5:c.*1430A>T	ENSP00000400212.1:n.*1430A>T
ENST00000454048.1:c.217A>T	ENSP00000404596.1:p.Met73Leu
ENST00000467427.5:n.389+1068A>T
ENST00000470343.5:n.595A>T
ENST00000473126.1:n.313A>T
ENST00000486953.5:n.163+1068A>T
ENST00000496252.5:n.469A>T
NM_001287249.1:c.712A>T	NP_001274178.1:p.Met238Leu
NM_152783.4:c.1114A>T	NP_689996.4:p.Met372Leu
NR_109778.1:n.1063-4487A>T
XM_011511734.1:c.1192A>T	XP_011510036.1:p.Met398Leu
XM_011511735.1:c.1192A>T	XP_011510037.1:p.Met398Leu
XM_011511736.1:c.1114A>T	XP_011510038.1:p.Met372Leu
XM_011511737.1:c.1192A>T	XP_011510039.1:p.Met398Leu
XM_011511742.1:c.*12A>T	XP_011510044.1:n.*12A>T
XM_011511743.1:c.*12A>T	XP_011510045.1:n.*12A>T
XM_011511744.1:c.*12A>T	XP_011510046.1:n.*12A>T
XM_011511745.1:c.1192A>T	XP_011510047.1:p.Met398Leu
XM_011511748.1:c.*12A>T	XP_011510050.1:n.*12A>T
XM_011511749.1:c.1179+1068A>T	XP_011510051.1:n.1179+1068A>T
XM_011511750.1:c.1192A>T	XP_011510052.1:p.Met398Leu
XM_011511751.1:c.1212+783A>T	XP_011510053.1:n.1212+783A>T
XM_011511753.1:c.1075+1068A>T	XP_011510055.1:n.1075+1068A>T
XM_011511754.1:c.631A>T	XP_011510056.1:p.Met211Leu
XM_011511755.1:c.622A>T	XP_011510057.1:p.Met208Leu
XM_011511756.1:c.853+6485A>T	XP_011510058.1:n.853+6485A>T
XR_241434.3:n.1453A>T
XR_923003.1:n.1975A>T
XR_923004.1:n.1746A>T
XR_923005.1:n.1489A>T
XR_923006.1:n.1489A>T
XR_923007.1:n.1456A>T
XR_923008.1:n.1352A>T
XR_923009.1:n.1352A>T
XR_923010.1:n.1786A>T
XR_923011.1:n.1557A>T
XR_923012.1:n.1491A>T
XR_923014.1:n.1014-4487A>T
NM_001352824.1:c.553A>T	NP_001339753.1:p.Met185Leu
XM_011511734.2:c.1192A>T	XP_011510036.1:p.Met398Leu
XM_011511735.2:c.1192A>T	XP_011510037.1:p.Met398Leu
XM_011511736.2:c.1114A>T	XP_011510038.1:p.Met372Leu
XM_011511737.3:c.1192A>T	XP_011510039.1:p.Met398Leu
XM_011511743.2:c.*12A>T	XP_011510045.1:n.*12A>T
XM_011511744.2:c.*12A>T	XP_011510046.1:n.*12A>T
XM_011511745.3:c.1192A>T	XP_011510047.1:p.Met398Leu
XM_011511749.3:c.1179+1068A>T	XP_011510051.1:n.1179+1068A>T
XM_011511750.3:c.1192A>T	XP_011510052.1:p.Met398Leu
XM_011511751.2:c.1212+783A>T	XP_011510053.1:n.1212+783A>T
XM_011511753.3:c.1075+1068A>T	XP_011510055.1:n.1075+1068A>T
XM_011511756.2:c.853+6485A>T	XP_011510058.1:n.853+6485A>T
XM_017004828.2:c.1114A>T	XP_016860317.1:p.Met372Leu
XM_017004829.2:c.*12A>T	XP_016860318.1:n.*12A>T
XM_017004830.2:c.1192A>T	XP_016860319.1:p.Met398Leu
XM_024453102.1:c.964A>T	XP_024308870.1:p.Met322Leu
XR_001738918.2:n.1488A>T
XR_001738919.2:n.1422A>T
XR_002959334.1:n.1974A>T
XR_002959335.1:n.1618A>T
XR_241434.4:n.1452A>T
XR_923004.3:n.1745A>T
XR_923005.2:n.1488A>T
XR_923007.3:n.1455A>T
XR_923009.2:n.1351A>T
XR_923010.2:n.1785A>T
XR_923011.3:n.1556A>T
XR_923012.2:n.1490A>T
XR_923014.3:n.1013-4487A>T
NM_152783.5:c.1114A>T MANE Select	NP_689996.4:p.Met372Leu
NM_001287249.2:c.712A>T	NP_001274178.1:p.Met238Leu
NM_001352824.2:c.553A>T	NP_001339753.1:p.Met185Leu
NR_109778.2:n.1012-4487A>T