Canonical Allele Identifier: CA351408721

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690720A>T (hg19) ; chr2:g.241751305A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751305A>T , CM000664.2:g.241751305A>T	GRCh38
NC_000002.11:g.242690720A>T , CM000664.1:g.242690720A>T	GRCh37
NC_000002.10:g.242339393A>T	NCBI36
NG_012012.1:g.21691A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1057A>T MANE Select	ENSP00000315351.4:p.Lys353Ter
ENST00000321264.8:c.1057A>T	ENSP00000315351.4:p.Lys353Ter
ENST00000400769.6:c.854-4544A>T	ENSP00000383580.2:n.854-4544A>T
ENST00000403782.5:c.655A>T	ENSP00000384723.1:p.Lys219Ter
ENST00000432449.1:c.317A>T
ENST00000436747.5:c.*1373A>T	ENSP00000400212.1:n.*1373A>T
ENST00000454048.1:c.160A>T	ENSP00000404596.1:p.Lys54Ter
ENST00000467427.5:n.389+1011A>T
ENST00000470343.5:n.538A>T
ENST00000473126.1:n.256A>T
ENST00000486953.5:n.163+1011A>T
ENST00000496252.5:n.412A>T
NM_001287249.1:c.655A>T	NP_001274178.1:p.Lys219Ter
NM_152783.4:c.1057A>T	NP_689996.4:p.Lys353Ter
NR_109778.1:n.1063-4544A>T
XM_011511734.1:c.1135A>T	XP_011510036.1:p.Lys379Ter
XM_011511735.1:c.1135A>T	XP_011510037.1:p.Lys379Ter
XM_011511736.1:c.1057A>T	XP_011510038.1:p.Lys353Ter
XM_011511737.1:c.1135A>T	XP_011510039.1:p.Lys379Ter
XM_011511742.1:c.1272A>T	XP_011510044.1:p.Arg424Ser
XM_011511743.1:c.1272A>T	XP_011510045.1:p.Arg424Ser
XM_011511744.1:c.1272A>T	XP_011510046.1:p.Arg424Ser
XM_011511745.1:c.1135A>T	XP_011510047.1:p.Lys379Ter
XM_011511748.1:c.1206A>T	XP_011510050.1:p.Arg402Ser
XM_011511749.1:c.1179+1011A>T	XP_011510051.1:n.1179+1011A>T
XM_011511750.1:c.1135A>T	XP_011510052.1:p.Lys379Ter
XM_011511751.1:c.1212+726A>T	XP_011510053.1:n.1212+726A>T
XM_011511753.1:c.1075+1011A>T	XP_011510055.1:n.1075+1011A>T
XM_011511754.1:c.574A>T	XP_011510056.1:p.Lys192Ter
XM_011511755.1:c.565A>T	XP_011510057.1:p.Lys189Ter
XM_011511756.1:c.853+6428A>T	XP_011510058.1:n.853+6428A>T
XM_011511757.1:c.*73A>T	XP_011510059.1:n.*73A>T
XR_241434.3:n.1396A>T
XR_923003.1:n.1918A>T
XR_923004.1:n.1689A>T
XR_923005.1:n.1432A>T
XR_923006.1:n.1432A>T
XR_923007.1:n.1399A>T
XR_923008.1:n.1295A>T
XR_923009.1:n.1295A>T
XR_923010.1:n.1729A>T
XR_923011.1:n.1500A>T
XR_923012.1:n.1434A>T
XR_923014.1:n.1014-4544A>T
NM_001352824.1:c.496A>T	NP_001339753.1:p.Lys166Ter
XM_011511734.2:c.1135A>T	XP_011510036.1:p.Lys379Ter
XM_011511735.2:c.1135A>T	XP_011510037.1:p.Lys379Ter
XM_011511736.2:c.1057A>T	XP_011510038.1:p.Lys353Ter
XM_011511737.3:c.1135A>T	XP_011510039.1:p.Lys379Ter
XM_011511743.2:c.1272A>T	XP_011510045.1:p.Arg424Ser
XM_011511744.2:c.1272A>T	XP_011510046.1:p.Arg424Ser
XM_011511745.3:c.1135A>T	XP_011510047.1:p.Lys379Ter
XM_011511749.3:c.1179+1011A>T	XP_011510051.1:n.1179+1011A>T
XM_011511750.3:c.1135A>T	XP_011510052.1:p.Lys379Ter
XM_011511751.2:c.1212+726A>T	XP_011510053.1:n.1212+726A>T
XM_011511753.3:c.1075+1011A>T	XP_011510055.1:n.1075+1011A>T
XM_011511756.2:c.853+6428A>T	XP_011510058.1:n.853+6428A>T
XM_011511757.3:c.*73A>T	XP_011510059.1:n.*73A>T
XM_017004828.2:c.1057A>T	XP_016860317.1:p.Lys353Ter
XM_017004829.2:c.1272A>T	XP_016860318.1:p.Arg424Ser
XM_017004830.2:c.1135A>T	XP_016860319.1:p.Lys379Ter
XM_024453102.1:c.907A>T	XP_024308870.1:p.Lys303Ter
XR_001738918.2:n.1431A>T
XR_001738919.2:n.1365A>T
XR_002959334.1:n.1917A>T
XR_002959335.1:n.1561A>T
XR_241434.4:n.1395A>T
XR_923004.3:n.1688A>T
XR_923005.2:n.1431A>T
XR_923007.3:n.1398A>T
XR_923009.2:n.1294A>T
XR_923010.2:n.1728A>T
XR_923011.3:n.1499A>T
XR_923012.2:n.1433A>T
XR_923014.3:n.1013-4544A>T
NM_152783.5:c.1057A>T MANE Select	NP_689996.4:p.Lys353Ter
NM_001287249.2:c.655A>T	NP_001274178.1:p.Lys219Ter
NM_001352824.2:c.496A>T	NP_001339753.1:p.Lys166Ter
NR_109778.2:n.1012-4544A>T