Canonical Allele Identifier: CA351408693

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241751293-C-T
• MyVariant Identifiers: chr2:g.242690708C>T (hg19) ; chr2:g.241751293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751293C>T , CM000664.2:g.241751293C>T	GRCh38
NC_000002.11:g.242690708C>T , CM000664.1:g.242690708C>T	GRCh37
NC_000002.10:g.242339381C>T	NCBI36
NG_012012.1:g.21679C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1045C>T MANE Select	ENSP00000315351.4:p.His349Tyr
ENST00000321264.8:c.1045C>T	ENSP00000315351.4:p.His349Tyr
ENST00000400769.6:c.854-4556C>T	ENSP00000383580.2:n.854-4556C>T
ENST00000403782.5:c.643C>T	ENSP00000384723.1:p.His215Tyr
ENST00000432449.1:c.305C>T
ENST00000436747.5:c.*1361C>T	ENSP00000400212.1:n.*1361C>T
ENST00000454048.1:c.148C>T	ENSP00000404596.1:p.His50Tyr
ENST00000467427.5:n.389+999C>T
ENST00000470343.5:n.526C>T
ENST00000473126.1:n.244C>T
ENST00000486953.5:n.163+999C>T
ENST00000496252.5:n.400C>T
NM_001287249.1:c.643C>T	NP_001274178.1:p.His215Tyr
NM_152783.4:c.1045C>T	NP_689996.4:p.His349Tyr
NR_109778.1:n.1063-4556C>T
XM_011511734.1:c.1123C>T	XP_011510036.1:p.His375Tyr
XM_011511735.1:c.1123C>T	XP_011510037.1:p.His375Tyr
XM_011511736.1:c.1045C>T	XP_011510038.1:p.His349Tyr
XM_011511737.1:c.1123C>T	XP_011510039.1:p.His375Tyr
XM_011511742.1:c.1260C>T	XP_011510044.1:p.Ala420=
XM_011511743.1:c.1260C>T	XP_011510045.1:p.Ala420=
XM_011511744.1:c.1260C>T	XP_011510046.1:p.Ala420=
XM_011511745.1:c.1123C>T	XP_011510047.1:p.His375Tyr
XM_011511748.1:c.1194C>T	XP_011510050.1:p.Ala398=
XM_011511749.1:c.1179+999C>T	XP_011510051.1:n.1179+999C>T
XM_011511750.1:c.1123C>T	XP_011510052.1:p.His375Tyr
XM_011511751.1:c.1212+714C>T	XP_011510053.1:n.1212+714C>T
XM_011511753.1:c.1075+999C>T	XP_011510055.1:n.1075+999C>T
XM_011511754.1:c.562C>T	XP_011510056.1:p.His188Tyr
XM_011511755.1:c.553C>T	XP_011510057.1:p.His185Tyr
XM_011511756.1:c.853+6416C>T	XP_011510058.1:n.853+6416C>T
XM_011511757.1:c.*61C>T	XP_011510059.1:n.*61C>T
XR_241434.3:n.1384C>T
XR_923003.1:n.1906C>T
XR_923004.1:n.1677C>T
XR_923005.1:n.1420C>T
XR_923006.1:n.1420C>T
XR_923007.1:n.1387C>T
XR_923008.1:n.1283C>T
XR_923009.1:n.1283C>T
XR_923010.1:n.1717C>T
XR_923011.1:n.1488C>T
XR_923012.1:n.1422C>T
XR_923014.1:n.1014-4556C>T
NM_001352824.1:c.484C>T	NP_001339753.1:p.His162Tyr
XM_011511734.2:c.1123C>T	XP_011510036.1:p.His375Tyr
XM_011511735.2:c.1123C>T	XP_011510037.1:p.His375Tyr
XM_011511736.2:c.1045C>T	XP_011510038.1:p.His349Tyr
XM_011511737.3:c.1123C>T	XP_011510039.1:p.His375Tyr
XM_011511743.2:c.1260C>T	XP_011510045.1:p.Ala420=
XM_011511744.2:c.1260C>T	XP_011510046.1:p.Ala420=
XM_011511745.3:c.1123C>T	XP_011510047.1:p.His375Tyr
XM_011511749.3:c.1179+999C>T	XP_011510051.1:n.1179+999C>T
XM_011511750.3:c.1123C>T	XP_011510052.1:p.His375Tyr
XM_011511751.2:c.1212+714C>T	XP_011510053.1:n.1212+714C>T
XM_011511753.3:c.1075+999C>T	XP_011510055.1:n.1075+999C>T
XM_011511756.2:c.853+6416C>T	XP_011510058.1:n.853+6416C>T
XM_011511757.3:c.*61C>T	XP_011510059.1:n.*61C>T
XM_017004828.2:c.1045C>T	XP_016860317.1:p.His349Tyr
XM_017004829.2:c.1260C>T	XP_016860318.1:p.Ala420=
XM_017004830.2:c.1123C>T	XP_016860319.1:p.His375Tyr
XM_024453102.1:c.895C>T	XP_024308870.1:p.His299Tyr
XR_001738918.2:n.1419C>T
XR_001738919.2:n.1353C>T
XR_002959334.1:n.1905C>T
XR_002959335.1:n.1549C>T
XR_241434.4:n.1383C>T
XR_923004.3:n.1676C>T
XR_923005.2:n.1419C>T
XR_923007.3:n.1386C>T
XR_923009.2:n.1282C>T
XR_923010.2:n.1716C>T
XR_923011.3:n.1487C>T
XR_923012.2:n.1421C>T
XR_923014.3:n.1013-4556C>T
NM_152783.5:c.1045C>T MANE Select	NP_689996.4:p.His349Tyr
NM_001287249.2:c.643C>T	NP_001274178.1:p.His215Tyr
NM_001352824.2:c.484C>T	NP_001339753.1:p.His162Tyr
NR_109778.2:n.1012-4556C>T