Canonical Allele Identifier: CA351412912

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707135C>G (hg19) ; chr2:g.241767720C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1317C>G MANE Select	ENSP00000315351.4:p.Asn439Lys
ENST00000321264.8:c.1317C>G	ENSP00000315351.4:p.Asn439Lys
ENST00000400769.6:c.*67C>G	ENSP00000383580.2:n.*67C>G
ENST00000403782.5:c.915C>G	ENSP00000384723.1:p.Asn305Lys
ENST00000436747.5:c.*2553C>G	ENSP00000400212.1:n.*2553C>G
ENST00000445308.1:c.713C>G
ENST00000468064.5:n.1207C>G
ENST00000470343.5:n.798C>G
ENST00000473126.1:n.516C>G
ENST00000486953.5:n.1141C>G
ENST00000610344.1:c.*161C>G	ENSP00000481906.1:n.*161C>G
NM_001287249.1:c.915C>G	NP_001274178.1:p.Asn305Lys
NM_152783.4:c.1317C>G	NP_689996.4:p.Asn439Lys
NR_109778.1:n.1239C>G
XM_011511734.1:c.1437C>G	XP_011510036.1:p.Asn479Lys
XM_011511735.1:c.1395C>G	XP_011510037.1:p.Asn465Lys
XM_011511736.1:c.1359C>G	XP_011510038.1:p.Asn453Lys
XM_011511744.1:c.*49C>G	XP_011510046.1:n.*49C>G
XM_011511750.1:c.1229C>G	XP_011510052.1:p.Thr410Ser
XM_011511754.1:c.876C>G	XP_011510056.1:p.Asn292Lys
XM_011511755.1:c.867C>G	XP_011510057.1:p.Asn289Lys
XM_011511756.1:c.864C>G	XP_011510058.1:p.Asn288Lys
XR_923004.1:n.1949C>G
XR_923007.1:n.1659C>G
XR_923011.1:n.1760C>G
NM_001352824.1:c.756C>G	NP_001339753.1:p.Asn252Lys
XM_011511734.2:c.1437C>G	XP_011510036.1:p.Asn479Lys
XM_011511735.2:c.1395C>G	XP_011510037.1:p.Asn465Lys
XM_011511736.2:c.1359C>G	XP_011510038.1:p.Asn453Lys
XM_011511744.2:c.*49C>G	XP_011510046.1:n.*49C>G
XM_011511750.3:c.1229C>G	XP_011510052.1:p.Thr410Ser
XM_011511756.2:c.864C>G	XP_011510058.1:p.Asn288Lys
XM_024453102.1:c.1209C>G	XP_024308870.1:p.Asn403Lys
XR_001738918.2:n.1691C>G
XR_001738919.2:n.1625C>G
XR_923004.3:n.1948C>G
XR_923007.3:n.1658C>G
XR_923011.3:n.1759C>G
NM_152783.5:c.1317C>G MANE Select	NP_689996.4:p.Asn439Lys
NM_001287249.2:c.915C>G	NP_001274178.1:p.Asn305Lys
NM_001352824.2:c.756C>G	NP_001339753.1:p.Asn252Lys
NR_109778.2:n.1188C>G