Canonical Allele Identifier: CA351413332

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1437469777
• gnomAD v2: 2-242707236-G-T
• gnomAD v4: 2-241767821-G-T
• MyVariant Identifiers: chr2:g.242707236G>T (hg19) ; chr2:g.241767821G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767821G>T , CM000664.2:g.241767821G>T	GRCh38
NC_000002.11:g.242707236G>T , CM000664.1:g.242707236G>T	GRCh37
NC_000002.10:g.242355909G>T	NCBI36
NG_012012.1:g.38207G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1418G>T MANE Select	ENSP00000315351.4:p.Ser473Ile
ENST00000321264.8:c.1418G>T	ENSP00000315351.4:p.Ser473Ile
ENST00000400769.6:c.*168G>T	ENSP00000383580.2:n.*168G>T
ENST00000403782.5:c.1016G>T	ENSP00000384723.1:p.Ser339Ile
ENST00000436747.5:c.*2654G>T	ENSP00000400212.1:n.*2654G>T
ENST00000445308.1:c.814G>T
ENST00000468064.5:n.1308G>T
ENST00000470343.5:n.899G>T
ENST00000473126.1:n.617G>T
ENST00000486953.5:n.1242G>T
ENST00000610344.1:c.*262G>T	ENSP00000481906.1:n.*262G>T
NM_001287249.1:c.1016G>T	NP_001274178.1:p.Ser339Ile
NM_152783.4:c.1418G>T	NP_689996.4:p.Ser473Ile
NR_109778.1:n.1340G>T
XM_011511734.1:c.1538G>T	XP_011510036.1:p.Ser513Ile
XM_011511735.1:c.1496G>T	XP_011510037.1:p.Ser499Ile
XM_011511736.1:c.1460G>T	XP_011510038.1:p.Ser487Ile
XM_011511750.1:c.*85G>T	XP_011510052.1:n.*85G>T
XM_011511754.1:c.977G>T	XP_011510056.1:p.Ser326Ile
XM_011511755.1:c.968G>T	XP_011510057.1:p.Ser323Ile
XM_011511756.1:c.965G>T	XP_011510058.1:p.Ser322Ile
XR_923004.1:n.2050G>T
XR_923007.1:n.1760G>T
XR_923011.1:n.1861G>T
NM_001352824.1:c.857G>T	NP_001339753.1:p.Ser286Ile
XM_011511734.2:c.1538G>T	XP_011510036.1:p.Ser513Ile
XM_011511735.2:c.1496G>T	XP_011510037.1:p.Ser499Ile
XM_011511736.2:c.1460G>T	XP_011510038.1:p.Ser487Ile
XM_011511750.3:c.*85G>T	XP_011510052.1:n.*85G>T
XM_011511756.2:c.965G>T	XP_011510058.1:p.Ser322Ile
XM_024453102.1:c.1310G>T	XP_024308870.1:p.Ser437Ile
XR_001738918.2:n.1792G>T
XR_001738919.2:n.1726G>T
XR_923004.3:n.2049G>T
XR_923007.3:n.1759G>T
XR_923011.3:n.1860G>T
NM_152783.5:c.1418G>T MANE Select	NP_689996.4:p.Ser473Ile
NM_001287249.2:c.1016G>T	NP_001274178.1:p.Ser339Ile
NM_001352824.2:c.857G>T	NP_001339753.1:p.Ser286Ile
NR_109778.2:n.1289G>T