Canonical Allele Identifier: CA432079032

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707171C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767756C>T , CM000664.2:g.241767756C>T	GRCh38
NC_000002.11:g.242707171C>T , CM000664.1:g.242707171C>T	GRCh37
NC_000002.10:g.242355844C>T	NCBI36
NG_012012.1:g.38142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1353C>T MANE Select	ENSP00000315351.4:p.Pro451=
ENST00000321264.8:c.1353C>T	ENSP00000315351.4:p.Pro451=
ENST00000400769.6:c.*103C>T	ENSP00000383580.2:n.*103C>T
ENST00000403782.5:c.951C>T	ENSP00000384723.1:p.Pro317=
ENST00000436747.5:c.*2589C>T	ENSP00000400212.1:n.*2589C>T
ENST00000445308.1:c.749C>T
ENST00000468064.5:n.1243C>T
ENST00000470343.5:n.834C>T
ENST00000473126.1:n.552C>T
ENST00000486953.5:n.1177C>T
ENST00000610344.1:c.*197C>T	ENSP00000481906.1:n.*197C>T
NM_001287249.1:c.951C>T	NP_001274178.1:p.Pro317=
NM_152783.4:c.1353C>T	NP_689996.4:p.Pro451=
NR_109778.1:n.1275C>T
XM_011511734.1:c.1473C>T	XP_011510036.1:p.Pro491=
XM_011511735.1:c.1431C>T	XP_011510037.1:p.Pro477=
XM_011511736.1:c.1395C>T	XP_011510038.1:p.Pro465=
XM_011511744.1:c.*85C>T	XP_011510046.1:n.*85C>T
XM_011511750.1:c.*20C>T	XP_011510052.1:n.*20C>T
XM_011511754.1:c.912C>T	XP_011510056.1:p.Pro304=
XM_011511755.1:c.903C>T	XP_011510057.1:p.Pro301=
XM_011511756.1:c.900C>T	XP_011510058.1:p.Pro300=
XR_923004.1:n.1985C>T
XR_923007.1:n.1695C>T
XR_923011.1:n.1796C>T
NM_001352824.1:c.792C>T	NP_001339753.1:p.Pro264=
XM_011511734.2:c.1473C>T	XP_011510036.1:p.Pro491=
XM_011511735.2:c.1431C>T	XP_011510037.1:p.Pro477=
XM_011511736.2:c.1395C>T	XP_011510038.1:p.Pro465=
XM_011511744.2:c.*85C>T	XP_011510046.1:n.*85C>T
XM_011511750.3:c.*20C>T	XP_011510052.1:n.*20C>T
XM_011511756.2:c.900C>T	XP_011510058.1:p.Pro300=
XM_024453102.1:c.1245C>T	XP_024308870.1:p.Pro415=
XR_001738918.2:n.1727C>T
XR_001738919.2:n.1661C>T
XR_923004.3:n.1984C>T
XR_923007.3:n.1694C>T
XR_923011.3:n.1795C>T
NM_152783.5:c.1353C>T MANE Select	NP_689996.4:p.Pro451=
NM_001287249.2:c.951C>T	NP_001274178.1:p.Pro317=
NM_001352824.2:c.792C>T	NP_001339753.1:p.Pro264=
NR_109778.2:n.1224C>T