Canonical Allele Identifier: CA351408630

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690675G>C (hg19) ; chr2:g.241751260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751260G>C , CM000664.2:g.241751260G>C	GRCh38
NC_000002.11:g.242690675G>C , CM000664.1:g.242690675G>C	GRCh37
NC_000002.10:g.242339348G>C	NCBI36
NG_012012.1:g.21646G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1012G>C MANE Select	ENSP00000315351.4:p.Val338Leu
ENST00000321264.8:c.1012G>C	ENSP00000315351.4:p.Val338Leu
ENST00000400769.6:c.854-4589G>C	ENSP00000383580.2:n.854-4589G>C
ENST00000403782.5:c.610G>C	ENSP00000384723.1:p.Val204Leu
ENST00000432449.1:c.272G>C
ENST00000436747.5:c.*1328G>C	ENSP00000400212.1:n.*1328G>C
ENST00000454048.1:c.115G>C	ENSP00000404596.1:p.Val39Leu
ENST00000467427.5:n.389+966G>C
ENST00000470343.5:n.493G>C
ENST00000473126.1:n.211G>C
ENST00000486953.5:n.163+966G>C
ENST00000496252.5:n.367G>C
NM_001287249.1:c.610G>C	NP_001274178.1:p.Val204Leu
NM_152783.4:c.1012G>C	NP_689996.4:p.Val338Leu
NR_109778.1:n.1063-4589G>C
XM_011511734.1:c.1090G>C	XP_011510036.1:p.Val364Leu
XM_011511735.1:c.1090G>C	XP_011510037.1:p.Val364Leu
XM_011511736.1:c.1012G>C	XP_011510038.1:p.Val338Leu
XM_011511737.1:c.1090G>C	XP_011510039.1:p.Val364Leu
XM_011511742.1:c.1227G>C	XP_011510044.1:p.Thr409=
XM_011511743.1:c.1227G>C	XP_011510045.1:p.Thr409=
XM_011511744.1:c.1227G>C	XP_011510046.1:p.Thr409=
XM_011511745.1:c.1090G>C	XP_011510047.1:p.Val364Leu
XM_011511748.1:c.1161G>C	XP_011510050.1:p.Thr387=
XM_011511749.1:c.1179+966G>C	XP_011510051.1:n.1179+966G>C
XM_011511750.1:c.1090G>C	XP_011510052.1:p.Val364Leu
XM_011511751.1:c.1212+681G>C	XP_011510053.1:n.1212+681G>C
XM_011511753.1:c.1075+966G>C	XP_011510055.1:n.1075+966G>C
XM_011511754.1:c.529G>C	XP_011510056.1:p.Val177Leu
XM_011511755.1:c.520G>C	XP_011510057.1:p.Val174Leu
XM_011511756.1:c.853+6383G>C	XP_011510058.1:n.853+6383G>C
XM_011511757.1:c.*28G>C	XP_011510059.1:n.*28G>C
XR_241434.3:n.1351G>C
XR_923003.1:n.1873G>C
XR_923004.1:n.1644G>C
XR_923005.1:n.1387G>C
XR_923006.1:n.1387G>C
XR_923007.1:n.1354G>C
XR_923008.1:n.1250G>C
XR_923009.1:n.1250G>C
XR_923010.1:n.1684G>C
XR_923011.1:n.1455G>C
XR_923012.1:n.1389G>C
XR_923014.1:n.1014-4589G>C
NM_001352824.1:c.451G>C	NP_001339753.1:p.Val151Leu
XM_011511734.2:c.1090G>C	XP_011510036.1:p.Val364Leu
XM_011511735.2:c.1090G>C	XP_011510037.1:p.Val364Leu
XM_011511736.2:c.1012G>C	XP_011510038.1:p.Val338Leu
XM_011511737.3:c.1090G>C	XP_011510039.1:p.Val364Leu
XM_011511743.2:c.1227G>C	XP_011510045.1:p.Thr409=
XM_011511744.2:c.1227G>C	XP_011510046.1:p.Thr409=
XM_011511745.3:c.1090G>C	XP_011510047.1:p.Val364Leu
XM_011511749.3:c.1179+966G>C	XP_011510051.1:n.1179+966G>C
XM_011511750.3:c.1090G>C	XP_011510052.1:p.Val364Leu
XM_011511751.2:c.1212+681G>C	XP_011510053.1:n.1212+681G>C
XM_011511753.3:c.1075+966G>C	XP_011510055.1:n.1075+966G>C
XM_011511756.2:c.853+6383G>C	XP_011510058.1:n.853+6383G>C
XM_011511757.3:c.*28G>C	XP_011510059.1:n.*28G>C
XM_017004828.2:c.1012G>C	XP_016860317.1:p.Val338Leu
XM_017004829.2:c.1227G>C	XP_016860318.1:p.Thr409=
XM_017004830.2:c.1090G>C	XP_016860319.1:p.Val364Leu
XM_024453102.1:c.862G>C	XP_024308870.1:p.Val288Leu
XR_001738918.2:n.1386G>C
XR_001738919.2:n.1320G>C
XR_002959334.1:n.1872G>C
XR_002959335.1:n.1516G>C
XR_241434.4:n.1350G>C
XR_923004.3:n.1643G>C
XR_923005.2:n.1386G>C
XR_923007.3:n.1353G>C
XR_923009.2:n.1249G>C
XR_923010.2:n.1683G>C
XR_923011.3:n.1454G>C
XR_923012.2:n.1388G>C
XR_923014.3:n.1013-4589G>C
NM_152783.5:c.1012G>C MANE Select	NP_689996.4:p.Val338Leu
NM_001287249.2:c.610G>C	NP_001274178.1:p.Val204Leu
NM_001352824.2:c.451G>C	NP_001339753.1:p.Val151Leu
NR_109778.2:n.1012-4589G>C