Canonical Allele Identifier: CA351412901

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707133A>T (hg19) ; chr2:g.241767718A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767718A>T , CM000664.2:g.241767718A>T	GRCh38
NC_000002.11:g.242707133A>T , CM000664.1:g.242707133A>T	GRCh37
NC_000002.10:g.242355806A>T	NCBI36
NG_012012.1:g.38104A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1315A>T MANE Select	ENSP00000315351.4:p.Asn439Tyr
ENST00000321264.8:c.1315A>T	ENSP00000315351.4:p.Asn439Tyr
ENST00000400769.6:c.*65A>T	ENSP00000383580.2:n.*65A>T
ENST00000403782.5:c.913A>T	ENSP00000384723.1:p.Asn305Tyr
ENST00000436747.5:c.*2551A>T	ENSP00000400212.1:n.*2551A>T
ENST00000445308.1:c.711A>T
ENST00000468064.5:n.1205A>T
ENST00000470343.5:n.796A>T
ENST00000473126.1:n.514A>T
ENST00000486953.5:n.1139A>T
ENST00000610344.1:c.*159A>T	ENSP00000481906.1:n.*159A>T
NM_001287249.1:c.913A>T	NP_001274178.1:p.Asn305Tyr
NM_152783.4:c.1315A>T	NP_689996.4:p.Asn439Tyr
NR_109778.1:n.1237A>T
XM_011511734.1:c.1435A>T	XP_011510036.1:p.Asn479Tyr
XM_011511735.1:c.1393A>T	XP_011510037.1:p.Asn465Tyr
XM_011511736.1:c.1357A>T	XP_011510038.1:p.Asn453Tyr
XM_011511744.1:c.*47A>T	XP_011510046.1:n.*47A>T
XM_011511750.1:c.1227A>T	XP_011510052.1:p.Val409=
XM_011511754.1:c.874A>T	XP_011510056.1:p.Asn292Tyr
XM_011511755.1:c.865A>T	XP_011510057.1:p.Asn289Tyr
XM_011511756.1:c.862A>T	XP_011510058.1:p.Asn288Tyr
XR_923004.1:n.1947A>T
XR_923007.1:n.1657A>T
XR_923011.1:n.1758A>T
NM_001352824.1:c.754A>T	NP_001339753.1:p.Asn252Tyr
XM_011511734.2:c.1435A>T	XP_011510036.1:p.Asn479Tyr
XM_011511735.2:c.1393A>T	XP_011510037.1:p.Asn465Tyr
XM_011511736.2:c.1357A>T	XP_011510038.1:p.Asn453Tyr
XM_011511744.2:c.*47A>T	XP_011510046.1:n.*47A>T
XM_011511750.3:c.1227A>T	XP_011510052.1:p.Val409=
XM_011511756.2:c.862A>T	XP_011510058.1:p.Asn288Tyr
XM_024453102.1:c.1207A>T	XP_024308870.1:p.Asn403Tyr
XR_001738918.2:n.1689A>T
XR_001738919.2:n.1623A>T
XR_923004.3:n.1946A>T
XR_923007.3:n.1656A>T
XR_923011.3:n.1757A>T
NM_152783.5:c.1315A>T MANE Select	NP_689996.4:p.Asn439Tyr
NM_001287249.2:c.913A>T	NP_001274178.1:p.Asn305Tyr
NM_001352824.2:c.754A>T	NP_001339753.1:p.Asn252Tyr
NR_109778.2:n.1186A>T