Canonical Allele Identifier: CA432078909

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707135C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767720C>T , CM000664.2:g.241767720C>T	GRCh38
NC_000002.11:g.242707135C>T , CM000664.1:g.242707135C>T	GRCh37
NC_000002.10:g.242355808C>T	NCBI36
NG_012012.1:g.38106C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1317C>T MANE Select	ENSP00000315351.4:p.Asn439=
ENST00000321264.8:c.1317C>T	ENSP00000315351.4:p.Asn439=
ENST00000400769.6:c.*67C>T	ENSP00000383580.2:n.*67C>T
ENST00000403782.5:c.915C>T	ENSP00000384723.1:p.Asn305=
ENST00000436747.5:c.*2553C>T	ENSP00000400212.1:n.*2553C>T
ENST00000445308.1:c.713C>T
ENST00000468064.5:n.1207C>T
ENST00000470343.5:n.798C>T
ENST00000473126.1:n.516C>T
ENST00000486953.5:n.1141C>T
ENST00000610344.1:c.*161C>T	ENSP00000481906.1:n.*161C>T
NM_001287249.1:c.915C>T	NP_001274178.1:p.Asn305=
NM_152783.4:c.1317C>T	NP_689996.4:p.Asn439=
NR_109778.1:n.1239C>T
XM_011511734.1:c.1437C>T	XP_011510036.1:p.Asn479=
XM_011511735.1:c.1395C>T	XP_011510037.1:p.Asn465=
XM_011511736.1:c.1359C>T	XP_011510038.1:p.Asn453=
XM_011511744.1:c.*49C>T	XP_011510046.1:n.*49C>T
XM_011511750.1:c.1229C>T	XP_011510052.1:p.Thr410Ile
XM_011511754.1:c.876C>T	XP_011510056.1:p.Asn292=
XM_011511755.1:c.867C>T	XP_011510057.1:p.Asn289=
XM_011511756.1:c.864C>T	XP_011510058.1:p.Asn288=
XR_923004.1:n.1949C>T
XR_923007.1:n.1659C>T
XR_923011.1:n.1760C>T
NM_001352824.1:c.756C>T	NP_001339753.1:p.Asn252=
XM_011511734.2:c.1437C>T	XP_011510036.1:p.Asn479=
XM_011511735.2:c.1395C>T	XP_011510037.1:p.Asn465=
XM_011511736.2:c.1359C>T	XP_011510038.1:p.Asn453=
XM_011511744.2:c.*49C>T	XP_011510046.1:n.*49C>T
XM_011511750.3:c.1229C>T	XP_011510052.1:p.Thr410Ile
XM_011511756.2:c.864C>T	XP_011510058.1:p.Asn288=
XM_024453102.1:c.1209C>T	XP_024308870.1:p.Asn403=
XR_001738918.2:n.1691C>T
XR_001738919.2:n.1625C>T
XR_923004.3:n.1948C>T
XR_923007.3:n.1658C>T
XR_923011.3:n.1759C>T
NM_152783.5:c.1317C>T MANE Select	NP_689996.4:p.Asn439=
NM_001287249.2:c.915C>T	NP_001274178.1:p.Asn305=
NM_001352824.2:c.756C>T	NP_001339753.1:p.Asn252=
NR_109778.2:n.1188C>T