Canonical Allele Identifier: CA351413620

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707290C>T (hg19) ; chr2:g.241767875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767875C>T , CM000664.2:g.241767875C>T	GRCh38
NC_000002.11:g.242707290C>T , CM000664.1:g.242707290C>T	GRCh37
NC_000002.10:g.242355963C>T	NCBI36
NG_012012.1:g.38261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1472C>T MANE Select	ENSP00000315351.4:p.Pro491Leu
ENST00000321264.8:c.1472C>T	ENSP00000315351.4:p.Pro491Leu
ENST00000400769.6:c.*222C>T	ENSP00000383580.2:n.*222C>T
ENST00000403782.5:c.1070C>T	ENSP00000384723.1:p.Pro357Leu
ENST00000436747.5:c.*2708C>T	ENSP00000400212.1:n.*2708C>T
ENST00000445308.1:c.868C>T
ENST00000468064.5:n.1362C>T
ENST00000470343.5:n.953C>T
ENST00000473126.1:n.671C>T
ENST00000486953.5:n.1296C>T
ENST00000610344.1:c.*316C>T	ENSP00000481906.1:n.*316C>T
NM_001287249.1:c.1070C>T	NP_001274178.1:p.Pro357Leu
NM_152783.4:c.1472C>T	NP_689996.4:p.Pro491Leu
NR_109778.1:n.1394C>T
XM_011511734.1:c.1592C>T	XP_011510036.1:p.Pro531Leu
XM_011511735.1:c.1550C>T	XP_011510037.1:p.Pro517Leu
XM_011511736.1:c.1514C>T	XP_011510038.1:p.Pro505Leu
XM_011511754.1:c.1031C>T	XP_011510056.1:p.Pro344Leu
XM_011511755.1:c.1022C>T	XP_011510057.1:p.Pro341Leu
XM_011511756.1:c.1019C>T	XP_011510058.1:p.Pro340Leu
XR_923004.1:n.2104C>T
XR_923007.1:n.1814C>T
XR_923011.1:n.1915C>T
NM_001352824.1:c.911C>T	NP_001339753.1:p.Pro304Leu
XM_011511734.2:c.1592C>T	XP_011510036.1:p.Pro531Leu
XM_011511735.2:c.1550C>T	XP_011510037.1:p.Pro517Leu
XM_011511736.2:c.1514C>T	XP_011510038.1:p.Pro505Leu
XM_011511756.2:c.1019C>T	XP_011510058.1:p.Pro340Leu
XM_024453102.1:c.1364C>T	XP_024308870.1:p.Pro455Leu
XR_001738918.2:n.1846C>T
XR_001738919.2:n.1780C>T
XR_923004.3:n.2103C>T
XR_923007.3:n.1813C>T
XR_923011.3:n.1914C>T
NM_152783.5:c.1472C>T MANE Select	NP_689996.4:p.Pro491Leu
NM_001287249.2:c.1070C>T	NP_001274178.1:p.Pro357Leu
NM_001352824.2:c.911C>T	NP_001339753.1:p.Pro304Leu
NR_109778.2:n.1343C>T