Canonical Allele Identifier: CA351413331

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707235A>T (hg19) ; chr2:g.241767820A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767820A>T , CM000664.2:g.241767820A>T	GRCh38
NC_000002.11:g.242707235A>T , CM000664.1:g.242707235A>T	GRCh37
NC_000002.10:g.242355908A>T	NCBI36
NG_012012.1:g.38206A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1417A>T MANE Select	ENSP00000315351.4:p.Ser473Cys
ENST00000321264.8:c.1417A>T	ENSP00000315351.4:p.Ser473Cys
ENST00000400769.6:c.*167A>T	ENSP00000383580.2:n.*167A>T
ENST00000403782.5:c.1015A>T	ENSP00000384723.1:p.Ser339Cys
ENST00000436747.5:c.*2653A>T	ENSP00000400212.1:n.*2653A>T
ENST00000445308.1:c.813A>T
ENST00000468064.5:n.1307A>T
ENST00000470343.5:n.898A>T
ENST00000473126.1:n.616A>T
ENST00000486953.5:n.1241A>T
ENST00000610344.1:c.*261A>T	ENSP00000481906.1:n.*261A>T
NM_001287249.1:c.1015A>T	NP_001274178.1:p.Ser339Cys
NM_152783.4:c.1417A>T	NP_689996.4:p.Ser473Cys
NR_109778.1:n.1339A>T
XM_011511734.1:c.1537A>T	XP_011510036.1:p.Ser513Cys
XM_011511735.1:c.1495A>T	XP_011510037.1:p.Ser499Cys
XM_011511736.1:c.1459A>T	XP_011510038.1:p.Ser487Cys
XM_011511750.1:c.*84A>T	XP_011510052.1:n.*84A>T
XM_011511754.1:c.976A>T	XP_011510056.1:p.Ser326Cys
XM_011511755.1:c.967A>T	XP_011510057.1:p.Ser323Cys
XM_011511756.1:c.964A>T	XP_011510058.1:p.Ser322Cys
XR_923004.1:n.2049A>T
XR_923007.1:n.1759A>T
XR_923011.1:n.1860A>T
NM_001352824.1:c.856A>T	NP_001339753.1:p.Ser286Cys
XM_011511734.2:c.1537A>T	XP_011510036.1:p.Ser513Cys
XM_011511735.2:c.1495A>T	XP_011510037.1:p.Ser499Cys
XM_011511736.2:c.1459A>T	XP_011510038.1:p.Ser487Cys
XM_011511750.3:c.*84A>T	XP_011510052.1:n.*84A>T
XM_011511756.2:c.964A>T	XP_011510058.1:p.Ser322Cys
XM_024453102.1:c.1309A>T	XP_024308870.1:p.Ser437Cys
XR_001738918.2:n.1791A>T
XR_001738919.2:n.1725A>T
XR_923004.3:n.2048A>T
XR_923007.3:n.1758A>T
XR_923011.3:n.1859A>T
NM_152783.5:c.1417A>T MANE Select	NP_689996.4:p.Ser473Cys
NM_001287249.2:c.1015A>T	NP_001274178.1:p.Ser339Cys
NM_001352824.2:c.856A>T	NP_001339753.1:p.Ser286Cys
NR_109778.2:n.1288A>T