Canonical Allele Identifier: CA351413333

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707236G>C (hg19) ; chr2:g.241767821G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767821G>C , CM000664.2:g.241767821G>C	GRCh38
NC_000002.11:g.242707236G>C , CM000664.1:g.242707236G>C	GRCh37
NC_000002.10:g.242355909G>C	NCBI36
NG_012012.1:g.38207G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1418G>C MANE Select	ENSP00000315351.4:p.Ser473Thr
ENST00000321264.8:c.1418G>C	ENSP00000315351.4:p.Ser473Thr
ENST00000400769.6:c.*168G>C	ENSP00000383580.2:n.*168G>C
ENST00000403782.5:c.1016G>C	ENSP00000384723.1:p.Ser339Thr
ENST00000436747.5:c.*2654G>C	ENSP00000400212.1:n.*2654G>C
ENST00000445308.1:c.814G>C
ENST00000468064.5:n.1308G>C
ENST00000470343.5:n.899G>C
ENST00000473126.1:n.617G>C
ENST00000486953.5:n.1242G>C
ENST00000610344.1:c.*262G>C	ENSP00000481906.1:n.*262G>C
NM_001287249.1:c.1016G>C	NP_001274178.1:p.Ser339Thr
NM_152783.4:c.1418G>C	NP_689996.4:p.Ser473Thr
NR_109778.1:n.1340G>C
XM_011511734.1:c.1538G>C	XP_011510036.1:p.Ser513Thr
XM_011511735.1:c.1496G>C	XP_011510037.1:p.Ser499Thr
XM_011511736.1:c.1460G>C	XP_011510038.1:p.Ser487Thr
XM_011511750.1:c.*85G>C	XP_011510052.1:n.*85G>C
XM_011511754.1:c.977G>C	XP_011510056.1:p.Ser326Thr
XM_011511755.1:c.968G>C	XP_011510057.1:p.Ser323Thr
XM_011511756.1:c.965G>C	XP_011510058.1:p.Ser322Thr
XR_923004.1:n.2050G>C
XR_923007.1:n.1760G>C
XR_923011.1:n.1861G>C
NM_001352824.1:c.857G>C	NP_001339753.1:p.Ser286Thr
XM_011511734.2:c.1538G>C	XP_011510036.1:p.Ser513Thr
XM_011511735.2:c.1496G>C	XP_011510037.1:p.Ser499Thr
XM_011511736.2:c.1460G>C	XP_011510038.1:p.Ser487Thr
XM_011511750.3:c.*85G>C	XP_011510052.1:n.*85G>C
XM_011511756.2:c.965G>C	XP_011510058.1:p.Ser322Thr
XM_024453102.1:c.1310G>C	XP_024308870.1:p.Ser437Thr
XR_001738918.2:n.1792G>C
XR_001738919.2:n.1726G>C
XR_923004.3:n.2049G>C
XR_923007.3:n.1759G>C
XR_923011.3:n.1860G>C
NM_152783.5:c.1418G>C MANE Select	NP_689996.4:p.Ser473Thr
NM_001287249.2:c.1016G>C	NP_001274178.1:p.Ser339Thr
NM_001352824.2:c.857G>C	NP_001339753.1:p.Ser286Thr
NR_109778.2:n.1289G>C