Canonical Allele Identifier: CA351413035

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707164T>C (hg19) ; chr2:g.241767749T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767749T>C , CM000664.2:g.241767749T>C	GRCh38
NC_000002.11:g.242707164T>C , CM000664.1:g.242707164T>C	GRCh37
NC_000002.10:g.242355837T>C	NCBI36
NG_012012.1:g.38135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1346T>C MANE Select	ENSP00000315351.4:p.Phe449Ser
ENST00000321264.8:c.1346T>C	ENSP00000315351.4:p.Phe449Ser
ENST00000400769.6:c.*96T>C	ENSP00000383580.2:n.*96T>C
ENST00000403782.5:c.944T>C	ENSP00000384723.1:p.Phe315Ser
ENST00000436747.5:c.*2582T>C	ENSP00000400212.1:n.*2582T>C
ENST00000445308.1:c.742T>C
ENST00000468064.5:n.1236T>C
ENST00000470343.5:n.827T>C
ENST00000473126.1:n.545T>C
ENST00000486953.5:n.1170T>C
ENST00000610344.1:c.*190T>C	ENSP00000481906.1:n.*190T>C
NM_001287249.1:c.944T>C	NP_001274178.1:p.Phe315Ser
NM_152783.4:c.1346T>C	NP_689996.4:p.Phe449Ser
NR_109778.1:n.1268T>C
XM_011511734.1:c.1466T>C	XP_011510036.1:p.Phe489Ser
XM_011511735.1:c.1424T>C	XP_011510037.1:p.Phe475Ser
XM_011511736.1:c.1388T>C	XP_011510038.1:p.Phe463Ser
XM_011511744.1:c.*78T>C	XP_011510046.1:n.*78T>C
XM_011511750.1:c.*13T>C	XP_011510052.1:n.*13T>C
XM_011511754.1:c.905T>C	XP_011510056.1:p.Phe302Ser
XM_011511755.1:c.896T>C	XP_011510057.1:p.Phe299Ser
XM_011511756.1:c.893T>C	XP_011510058.1:p.Phe298Ser
XR_923004.1:n.1978T>C
XR_923007.1:n.1688T>C
XR_923011.1:n.1789T>C
NM_001352824.1:c.785T>C	NP_001339753.1:p.Phe262Ser
XM_011511734.2:c.1466T>C	XP_011510036.1:p.Phe489Ser
XM_011511735.2:c.1424T>C	XP_011510037.1:p.Phe475Ser
XM_011511736.2:c.1388T>C	XP_011510038.1:p.Phe463Ser
XM_011511744.2:c.*78T>C	XP_011510046.1:n.*78T>C
XM_011511750.3:c.*13T>C	XP_011510052.1:n.*13T>C
XM_011511756.2:c.893T>C	XP_011510058.1:p.Phe298Ser
XM_024453102.1:c.1238T>C	XP_024308870.1:p.Phe413Ser
XR_001738918.2:n.1720T>C
XR_001738919.2:n.1654T>C
XR_923004.3:n.1977T>C
XR_923007.3:n.1687T>C
XR_923011.3:n.1788T>C
NM_152783.5:c.1346T>C MANE Select	NP_689996.4:p.Phe449Ser
NM_001287249.2:c.944T>C	NP_001274178.1:p.Phe315Ser
NM_001352824.2:c.785T>C	NP_001339753.1:p.Phe262Ser
NR_109778.2:n.1217T>C