Canonical Allele Identifier: CA351413303

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707230G>T (hg19) ; chr2:g.241767815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767815G>T , CM000664.2:g.241767815G>T	GRCh38
NC_000002.11:g.242707230G>T , CM000664.1:g.242707230G>T	GRCh37
NC_000002.10:g.242355903G>T	NCBI36
NG_012012.1:g.38201G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1412G>T MANE Select	ENSP00000315351.4:p.Ser471Ile
ENST00000321264.8:c.1412G>T	ENSP00000315351.4:p.Ser471Ile
ENST00000400769.6:c.*162G>T	ENSP00000383580.2:n.*162G>T
ENST00000403782.5:c.1010G>T	ENSP00000384723.1:p.Ser337Ile
ENST00000436747.5:c.*2648G>T	ENSP00000400212.1:n.*2648G>T
ENST00000445308.1:c.808G>T
ENST00000468064.5:n.1302G>T
ENST00000470343.5:n.893G>T
ENST00000473126.1:n.611G>T
ENST00000486953.5:n.1236G>T
ENST00000610344.1:c.*256G>T	ENSP00000481906.1:n.*256G>T
NM_001287249.1:c.1010G>T	NP_001274178.1:p.Ser337Ile
NM_152783.4:c.1412G>T	NP_689996.4:p.Ser471Ile
NR_109778.1:n.1334G>T
XM_011511734.1:c.1532G>T	XP_011510036.1:p.Ser511Ile
XM_011511735.1:c.1490G>T	XP_011510037.1:p.Ser497Ile
XM_011511736.1:c.1454G>T	XP_011510038.1:p.Ser485Ile
XM_011511750.1:c.*79G>T	XP_011510052.1:n.*79G>T
XM_011511754.1:c.971G>T	XP_011510056.1:p.Ser324Ile
XM_011511755.1:c.962G>T	XP_011510057.1:p.Ser321Ile
XM_011511756.1:c.959G>T	XP_011510058.1:p.Ser320Ile
XR_923004.1:n.2044G>T
XR_923007.1:n.1754G>T
XR_923011.1:n.1855G>T
NM_001352824.1:c.851G>T	NP_001339753.1:p.Ser284Ile
XM_011511734.2:c.1532G>T	XP_011510036.1:p.Ser511Ile
XM_011511735.2:c.1490G>T	XP_011510037.1:p.Ser497Ile
XM_011511736.2:c.1454G>T	XP_011510038.1:p.Ser485Ile
XM_011511750.3:c.*79G>T	XP_011510052.1:n.*79G>T
XM_011511756.2:c.959G>T	XP_011510058.1:p.Ser320Ile
XM_024453102.1:c.1304G>T	XP_024308870.1:p.Ser435Ile
XR_001738918.2:n.1786G>T
XR_001738919.2:n.1720G>T
XR_923004.3:n.2043G>T
XR_923007.3:n.1753G>T
XR_923011.3:n.1854G>T
NM_152783.5:c.1412G>T MANE Select	NP_689996.4:p.Ser471Ile
NM_001287249.2:c.1010G>T	NP_001274178.1:p.Ser337Ile
NM_001352824.2:c.851G>T	NP_001339753.1:p.Ser284Ile
NR_109778.2:n.1283G>T