Canonical Allele Identifier: CA351413520

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707271G>T (hg19) ; chr2:g.241767856G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767856G>T , CM000664.2:g.241767856G>T	GRCh38
NC_000002.11:g.242707271G>T , CM000664.1:g.242707271G>T	GRCh37
NC_000002.10:g.242355944G>T	NCBI36
NG_012012.1:g.38242G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1453G>T MANE Select	ENSP00000315351.4:p.Val485Phe
ENST00000321264.8:c.1453G>T	ENSP00000315351.4:p.Val485Phe
ENST00000400769.6:c.*203G>T	ENSP00000383580.2:n.*203G>T
ENST00000403782.5:c.1051G>T	ENSP00000384723.1:p.Val351Phe
ENST00000436747.5:c.*2689G>T	ENSP00000400212.1:n.*2689G>T
ENST00000445308.1:c.849G>T
ENST00000468064.5:n.1343G>T
ENST00000470343.5:n.934G>T
ENST00000473126.1:n.652G>T
ENST00000486953.5:n.1277G>T
ENST00000610344.1:c.*297G>T	ENSP00000481906.1:n.*297G>T
NM_001287249.1:c.1051G>T	NP_001274178.1:p.Val351Phe
NM_152783.4:c.1453G>T	NP_689996.4:p.Val485Phe
NR_109778.1:n.1375G>T
XM_011511734.1:c.1573G>T	XP_011510036.1:p.Val525Phe
XM_011511735.1:c.1531G>T	XP_011510037.1:p.Val511Phe
XM_011511736.1:c.1495G>T	XP_011510038.1:p.Val499Phe
XM_011511754.1:c.1012G>T	XP_011510056.1:p.Val338Phe
XM_011511755.1:c.1003G>T	XP_011510057.1:p.Val335Phe
XM_011511756.1:c.1000G>T	XP_011510058.1:p.Val334Phe
XR_923004.1:n.2085G>T
XR_923007.1:n.1795G>T
XR_923011.1:n.1896G>T
NM_001352824.1:c.892G>T	NP_001339753.1:p.Val298Phe
XM_011511734.2:c.1573G>T	XP_011510036.1:p.Val525Phe
XM_011511735.2:c.1531G>T	XP_011510037.1:p.Val511Phe
XM_011511736.2:c.1495G>T	XP_011510038.1:p.Val499Phe
XM_011511756.2:c.1000G>T	XP_011510058.1:p.Val334Phe
XM_024453102.1:c.1345G>T	XP_024308870.1:p.Val449Phe
XR_001738918.2:n.1827G>T
XR_001738919.2:n.1761G>T
XR_923004.3:n.2084G>T
XR_923007.3:n.1794G>T
XR_923011.3:n.1895G>T
NM_152783.5:c.1453G>T MANE Select	NP_689996.4:p.Val485Phe
NM_001287249.2:c.1051G>T	NP_001274178.1:p.Val351Phe
NM_001352824.2:c.892G>T	NP_001339753.1:p.Val298Phe
NR_109778.2:n.1324G>T