Canonical Allele Identifier: CA351413049

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707169C>G (hg19) ; chr2:g.241767754C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767754C>G , CM000664.2:g.241767754C>G	GRCh38
NC_000002.11:g.242707169C>G , CM000664.1:g.242707169C>G	GRCh37
NC_000002.10:g.242355842C>G	NCBI36
NG_012012.1:g.38140C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1351C>G MANE Select	ENSP00000315351.4:p.Pro451Ala
ENST00000321264.8:c.1351C>G	ENSP00000315351.4:p.Pro451Ala
ENST00000400769.6:c.*101C>G	ENSP00000383580.2:n.*101C>G
ENST00000403782.5:c.949C>G	ENSP00000384723.1:p.Pro317Ala
ENST00000436747.5:c.*2587C>G	ENSP00000400212.1:n.*2587C>G
ENST00000445308.1:c.747C>G
ENST00000468064.5:n.1241C>G
ENST00000470343.5:n.832C>G
ENST00000473126.1:n.550C>G
ENST00000486953.5:n.1175C>G
ENST00000610344.1:c.*195C>G	ENSP00000481906.1:n.*195C>G
NM_001287249.1:c.949C>G	NP_001274178.1:p.Pro317Ala
NM_152783.4:c.1351C>G	NP_689996.4:p.Pro451Ala
NR_109778.1:n.1273C>G
XM_011511734.1:c.1471C>G	XP_011510036.1:p.Pro491Ala
XM_011511735.1:c.1429C>G	XP_011510037.1:p.Pro477Ala
XM_011511736.1:c.1393C>G	XP_011510038.1:p.Pro465Ala
XM_011511744.1:c.*83C>G	XP_011510046.1:n.*83C>G
XM_011511750.1:c.*18C>G	XP_011510052.1:n.*18C>G
XM_011511754.1:c.910C>G	XP_011510056.1:p.Pro304Ala
XM_011511755.1:c.901C>G	XP_011510057.1:p.Pro301Ala
XM_011511756.1:c.898C>G	XP_011510058.1:p.Pro300Ala
XR_923004.1:n.1983C>G
XR_923007.1:n.1693C>G
XR_923011.1:n.1794C>G
NM_001352824.1:c.790C>G	NP_001339753.1:p.Pro264Ala
XM_011511734.2:c.1471C>G	XP_011510036.1:p.Pro491Ala
XM_011511735.2:c.1429C>G	XP_011510037.1:p.Pro477Ala
XM_011511736.2:c.1393C>G	XP_011510038.1:p.Pro465Ala
XM_011511744.2:c.*83C>G	XP_011510046.1:n.*83C>G
XM_011511750.3:c.*18C>G	XP_011510052.1:n.*18C>G
XM_011511756.2:c.898C>G	XP_011510058.1:p.Pro300Ala
XM_024453102.1:c.1243C>G	XP_024308870.1:p.Pro415Ala
XR_001738918.2:n.1725C>G
XR_001738919.2:n.1659C>G
XR_923004.3:n.1982C>G
XR_923007.3:n.1692C>G
XR_923011.3:n.1793C>G
NM_152783.5:c.1351C>G MANE Select	NP_689996.4:p.Pro451Ala
NM_001287249.2:c.949C>G	NP_001274178.1:p.Pro317Ala
NM_001352824.2:c.790C>G	NP_001339753.1:p.Pro264Ala
NR_109778.2:n.1222C>G