Canonical Allele Identifier: CA351408697

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690709A>T (hg19) ; chr2:g.241751294A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751294A>T , CM000664.2:g.241751294A>T	GRCh38
NC_000002.11:g.242690709A>T , CM000664.1:g.242690709A>T	GRCh37
NC_000002.10:g.242339382A>T	NCBI36
NG_012012.1:g.21680A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1046A>T MANE Select	ENSP00000315351.4:p.His349Leu
ENST00000321264.8:c.1046A>T	ENSP00000315351.4:p.His349Leu
ENST00000400769.6:c.854-4555A>T	ENSP00000383580.2:n.854-4555A>T
ENST00000403782.5:c.644A>T	ENSP00000384723.1:p.His215Leu
ENST00000432449.1:c.306A>T
ENST00000436747.5:c.*1362A>T	ENSP00000400212.1:n.*1362A>T
ENST00000454048.1:c.149A>T	ENSP00000404596.1:p.His50Leu
ENST00000467427.5:n.389+1000A>T
ENST00000470343.5:n.527A>T
ENST00000473126.1:n.245A>T
ENST00000486953.5:n.163+1000A>T
ENST00000496252.5:n.401A>T
NM_001287249.1:c.644A>T	NP_001274178.1:p.His215Leu
NM_152783.4:c.1046A>T	NP_689996.4:p.His349Leu
NR_109778.1:n.1063-4555A>T
XM_011511734.1:c.1124A>T	XP_011510036.1:p.His375Leu
XM_011511735.1:c.1124A>T	XP_011510037.1:p.His375Leu
XM_011511736.1:c.1046A>T	XP_011510038.1:p.His349Leu
XM_011511737.1:c.1124A>T	XP_011510039.1:p.His375Leu
XM_011511742.1:c.1261A>T	XP_011510044.1:p.Met421Leu
XM_011511743.1:c.1261A>T	XP_011510045.1:p.Met421Leu
XM_011511744.1:c.1261A>T	XP_011510046.1:p.Met421Leu
XM_011511745.1:c.1124A>T	XP_011510047.1:p.His375Leu
XM_011511748.1:c.1195A>T	XP_011510050.1:p.Met399Leu
XM_011511749.1:c.1179+1000A>T	XP_011510051.1:n.1179+1000A>T
XM_011511750.1:c.1124A>T	XP_011510052.1:p.His375Leu
XM_011511751.1:c.1212+715A>T	XP_011510053.1:n.1212+715A>T
XM_011511753.1:c.1075+1000A>T	XP_011510055.1:n.1075+1000A>T
XM_011511754.1:c.563A>T	XP_011510056.1:p.His188Leu
XM_011511755.1:c.554A>T	XP_011510057.1:p.His185Leu
XM_011511756.1:c.853+6417A>T	XP_011510058.1:n.853+6417A>T
XM_011511757.1:c.*62A>T	XP_011510059.1:n.*62A>T
XR_241434.3:n.1385A>T
XR_923003.1:n.1907A>T
XR_923004.1:n.1678A>T
XR_923005.1:n.1421A>T
XR_923006.1:n.1421A>T
XR_923007.1:n.1388A>T
XR_923008.1:n.1284A>T
XR_923009.1:n.1284A>T
XR_923010.1:n.1718A>T
XR_923011.1:n.1489A>T
XR_923012.1:n.1423A>T
XR_923014.1:n.1014-4555A>T
NM_001352824.1:c.485A>T	NP_001339753.1:p.His162Leu
XM_011511734.2:c.1124A>T	XP_011510036.1:p.His375Leu
XM_011511735.2:c.1124A>T	XP_011510037.1:p.His375Leu
XM_011511736.2:c.1046A>T	XP_011510038.1:p.His349Leu
XM_011511737.3:c.1124A>T	XP_011510039.1:p.His375Leu
XM_011511743.2:c.1261A>T	XP_011510045.1:p.Met421Leu
XM_011511744.2:c.1261A>T	XP_011510046.1:p.Met421Leu
XM_011511745.3:c.1124A>T	XP_011510047.1:p.His375Leu
XM_011511749.3:c.1179+1000A>T	XP_011510051.1:n.1179+1000A>T
XM_011511750.3:c.1124A>T	XP_011510052.1:p.His375Leu
XM_011511751.2:c.1212+715A>T	XP_011510053.1:n.1212+715A>T
XM_011511753.3:c.1075+1000A>T	XP_011510055.1:n.1075+1000A>T
XM_011511756.2:c.853+6417A>T	XP_011510058.1:n.853+6417A>T
XM_011511757.3:c.*62A>T	XP_011510059.1:n.*62A>T
XM_017004828.2:c.1046A>T	XP_016860317.1:p.His349Leu
XM_017004829.2:c.1261A>T	XP_016860318.1:p.Met421Leu
XM_017004830.2:c.1124A>T	XP_016860319.1:p.His375Leu
XM_024453102.1:c.896A>T	XP_024308870.1:p.His299Leu
XR_001738918.2:n.1420A>T
XR_001738919.2:n.1354A>T
XR_002959334.1:n.1906A>T
XR_002959335.1:n.1550A>T
XR_241434.4:n.1384A>T
XR_923004.3:n.1677A>T
XR_923005.2:n.1420A>T
XR_923007.3:n.1387A>T
XR_923009.2:n.1283A>T
XR_923010.2:n.1717A>T
XR_923011.3:n.1488A>T
XR_923012.2:n.1422A>T
XR_923014.3:n.1013-4555A>T
NM_152783.5:c.1046A>T MANE Select	NP_689996.4:p.His349Leu
NM_001287249.2:c.644A>T	NP_001274178.1:p.His215Leu
NM_001352824.2:c.485A>T	NP_001339753.1:p.His162Leu
NR_109778.2:n.1012-4555A>T