Canonical Allele Identifier: CA351413134

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707211A>C (hg19) ; chr2:g.241767796A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767796A>C , CM000664.2:g.241767796A>C	GRCh38
NC_000002.11:g.242707211A>C , CM000664.1:g.242707211A>C	GRCh37
NC_000002.10:g.242355884A>C	NCBI36
NG_012012.1:g.38182A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1393A>C MANE Select	ENSP00000315351.4:p.Thr465Pro
ENST00000321264.8:c.1393A>C	ENSP00000315351.4:p.Thr465Pro
ENST00000400769.6:c.*143A>C	ENSP00000383580.2:n.*143A>C
ENST00000403782.5:c.991A>C	ENSP00000384723.1:p.Thr331Pro
ENST00000436747.5:c.*2629A>C	ENSP00000400212.1:n.*2629A>C
ENST00000445308.1:c.789A>C
ENST00000468064.5:n.1283A>C
ENST00000470343.5:n.874A>C
ENST00000473126.1:n.592A>C
ENST00000486953.5:n.1217A>C
ENST00000610344.1:c.*237A>C	ENSP00000481906.1:n.*237A>C
NM_001287249.1:c.991A>C	NP_001274178.1:p.Thr331Pro
NM_152783.4:c.1393A>C	NP_689996.4:p.Thr465Pro
NR_109778.1:n.1315A>C
XM_011511734.1:c.1513A>C	XP_011510036.1:p.Thr505Pro
XM_011511735.1:c.1471A>C	XP_011510037.1:p.Thr491Pro
XM_011511736.1:c.1435A>C	XP_011510038.1:p.Thr479Pro
XM_011511744.1:c.*125A>C	XP_011510046.1:n.*125A>C
XM_011511750.1:c.*60A>C	XP_011510052.1:n.*60A>C
XM_011511754.1:c.952A>C	XP_011510056.1:p.Thr318Pro
XM_011511755.1:c.943A>C	XP_011510057.1:p.Thr315Pro
XM_011511756.1:c.940A>C	XP_011510058.1:p.Thr314Pro
XR_923004.1:n.2025A>C
XR_923007.1:n.1735A>C
XR_923011.1:n.1836A>C
NM_001352824.1:c.832A>C	NP_001339753.1:p.Thr278Pro
XM_011511734.2:c.1513A>C	XP_011510036.1:p.Thr505Pro
XM_011511735.2:c.1471A>C	XP_011510037.1:p.Thr491Pro
XM_011511736.2:c.1435A>C	XP_011510038.1:p.Thr479Pro
XM_011511750.3:c.*60A>C	XP_011510052.1:n.*60A>C
XM_011511756.2:c.940A>C	XP_011510058.1:p.Thr314Pro
XM_024453102.1:c.1285A>C	XP_024308870.1:p.Thr429Pro
XR_001738918.2:n.1767A>C
XR_001738919.2:n.1701A>C
XR_923004.3:n.2024A>C
XR_923007.3:n.1734A>C
XR_923011.3:n.1835A>C
NM_152783.5:c.1393A>C MANE Select	NP_689996.4:p.Thr465Pro
NM_001287249.2:c.991A>C	NP_001274178.1:p.Thr331Pro
NM_001352824.2:c.832A>C	NP_001339753.1:p.Thr278Pro
NR_109778.2:n.1264A>C