Canonical Allele Identifier: CA351412910

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767720-C-A
• MyVariant Identifiers: chr2:g.242707135C>A (hg19) ; chr2:g.241767720C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1317C>A MANE Select	ENSP00000315351.4:p.Asn439Lys
ENST00000321264.8:c.1317C>A	ENSP00000315351.4:p.Asn439Lys
ENST00000400769.6:c.*67C>A	ENSP00000383580.2:n.*67C>A
ENST00000403782.5:c.915C>A	ENSP00000384723.1:p.Asn305Lys
ENST00000436747.5:c.*2553C>A	ENSP00000400212.1:n.*2553C>A
ENST00000445308.1:c.713C>A
ENST00000468064.5:n.1207C>A
ENST00000470343.5:n.798C>A
ENST00000473126.1:n.516C>A
ENST00000486953.5:n.1141C>A
ENST00000610344.1:c.*161C>A	ENSP00000481906.1:n.*161C>A
NM_001287249.1:c.915C>A	NP_001274178.1:p.Asn305Lys
NM_152783.4:c.1317C>A	NP_689996.4:p.Asn439Lys
NR_109778.1:n.1239C>A
XM_011511734.1:c.1437C>A	XP_011510036.1:p.Asn479Lys
XM_011511735.1:c.1395C>A	XP_011510037.1:p.Asn465Lys
XM_011511736.1:c.1359C>A	XP_011510038.1:p.Asn453Lys
XM_011511744.1:c.*49C>A	XP_011510046.1:n.*49C>A
XM_011511750.1:c.1229C>A	XP_011510052.1:p.Thr410Asn
XM_011511754.1:c.876C>A	XP_011510056.1:p.Asn292Lys
XM_011511755.1:c.867C>A	XP_011510057.1:p.Asn289Lys
XM_011511756.1:c.864C>A	XP_011510058.1:p.Asn288Lys
XR_923004.1:n.1949C>A
XR_923007.1:n.1659C>A
XR_923011.1:n.1760C>A
NM_001352824.1:c.756C>A	NP_001339753.1:p.Asn252Lys
XM_011511734.2:c.1437C>A	XP_011510036.1:p.Asn479Lys
XM_011511735.2:c.1395C>A	XP_011510037.1:p.Asn465Lys
XM_011511736.2:c.1359C>A	XP_011510038.1:p.Asn453Lys
XM_011511744.2:c.*49C>A	XP_011510046.1:n.*49C>A
XM_011511750.3:c.1229C>A	XP_011510052.1:p.Thr410Asn
XM_011511756.2:c.864C>A	XP_011510058.1:p.Asn288Lys
XM_024453102.1:c.1209C>A	XP_024308870.1:p.Asn403Lys
XR_001738918.2:n.1691C>A
XR_001738919.2:n.1625C>A
XR_923004.3:n.1948C>A
XR_923007.3:n.1658C>A
XR_923011.3:n.1759C>A
NM_152783.5:c.1317C>A MANE Select	NP_689996.4:p.Asn439Lys
NM_001287249.2:c.915C>A	NP_001274178.1:p.Asn305Lys
NM_001352824.2:c.756C>A	NP_001339753.1:p.Asn252Lys
NR_109778.2:n.1188C>A