Canonical Allele Identifier: CA351413152

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1699277602
• gnomAD v3: 2-241767808-C-T
• gnomAD v4: 2-241767808-C-T
• MyVariant Identifiers: chr2:g.242707223C>T (hg19) ; chr2:g.241767808C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767808C>T , CM000664.2:g.241767808C>T	GRCh38
NC_000002.11:g.242707223C>T , CM000664.1:g.242707223C>T	GRCh37
NC_000002.10:g.242355896C>T	NCBI36
NG_012012.1:g.38194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1405C>T MANE Select	ENSP00000315351.4:p.Gln469Ter
ENST00000321264.8:c.1405C>T	ENSP00000315351.4:p.Gln469Ter
ENST00000400769.6:c.*155C>T	ENSP00000383580.2:n.*155C>T
ENST00000403782.5:c.1003C>T	ENSP00000384723.1:p.Gln335Ter
ENST00000436747.5:c.*2641C>T	ENSP00000400212.1:n.*2641C>T
ENST00000445308.1:c.801C>T
ENST00000468064.5:n.1295C>T
ENST00000470343.5:n.886C>T
ENST00000473126.1:n.604C>T
ENST00000486953.5:n.1229C>T
ENST00000610344.1:c.*249C>T	ENSP00000481906.1:n.*249C>T
NM_001287249.1:c.1003C>T	NP_001274178.1:p.Gln335Ter
NM_152783.4:c.1405C>T	NP_689996.4:p.Gln469Ter
NR_109778.1:n.1327C>T
XM_011511734.1:c.1525C>T	XP_011510036.1:p.Gln509Ter
XM_011511735.1:c.1483C>T	XP_011510037.1:p.Gln495Ter
XM_011511736.1:c.1447C>T	XP_011510038.1:p.Gln483Ter
XM_011511750.1:c.*72C>T	XP_011510052.1:n.*72C>T
XM_011511754.1:c.964C>T	XP_011510056.1:p.Gln322Ter
XM_011511755.1:c.955C>T	XP_011510057.1:p.Gln319Ter
XM_011511756.1:c.952C>T	XP_011510058.1:p.Gln318Ter
XR_923004.1:n.2037C>T
XR_923007.1:n.1747C>T
XR_923011.1:n.1848C>T
NM_001352824.1:c.844C>T	NP_001339753.1:p.Gln282Ter
XM_011511734.2:c.1525C>T	XP_011510036.1:p.Gln509Ter
XM_011511735.2:c.1483C>T	XP_011510037.1:p.Gln495Ter
XM_011511736.2:c.1447C>T	XP_011510038.1:p.Gln483Ter
XM_011511750.3:c.*72C>T	XP_011510052.1:n.*72C>T
XM_011511756.2:c.952C>T	XP_011510058.1:p.Gln318Ter
XM_024453102.1:c.1297C>T	XP_024308870.1:p.Gln433Ter
XR_001738918.2:n.1779C>T
XR_001738919.2:n.1713C>T
XR_923004.3:n.2036C>T
XR_923007.3:n.1746C>T
XR_923011.3:n.1847C>T
NM_152783.5:c.1405C>T MANE Select	NP_689996.4:p.Gln469Ter
NM_001287249.2:c.1003C>T	NP_001274178.1:p.Gln335Ter
NM_001352824.2:c.844C>T	NP_001339753.1:p.Gln282Ter
NR_109778.2:n.1276C>T