Canonical Allele Identifier: CA2222210

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 1448519
• ClinVar RCV Id: RCV002012174
• dbSNP Id: rs527825722
• ExAC: 2:242707169 C / T
• gnomAD v2: 2-242707169-C-T
• gnomAD v3: 2-241767754-C-T
• gnomAD v4: 2-241767754-C-T
• MyVariant Identifiers: chr2:g.242707169C>T (hg19) ; chr2:g.241767754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767754C>T , CM000664.2:g.241767754C>T	GRCh38
NC_000002.11:g.242707169C>T , CM000664.1:g.242707169C>T	GRCh37
NC_000002.10:g.242355842C>T	NCBI36
NG_012012.1:g.38140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1351C>T MANE Select	ENSP00000315351.4:p.Pro451Ser
ENST00000321264.8:c.1351C>T	ENSP00000315351.4:p.Pro451Ser
ENST00000400769.6:c.*101C>T	ENSP00000383580.2:n.*101C>T
ENST00000403782.5:c.949C>T	ENSP00000384723.1:p.Pro317Ser
ENST00000436747.5:c.*2587C>T	ENSP00000400212.1:n.*2587C>T
ENST00000445308.1:c.747C>T
ENST00000468064.5:n.1241C>T
ENST00000470343.5:n.832C>T
ENST00000473126.1:n.550C>T
ENST00000486953.5:n.1175C>T
ENST00000610344.1:c.*195C>T	ENSP00000481906.1:n.*195C>T
NM_001287249.1:c.949C>T	NP_001274178.1:p.Pro317Ser
NM_152783.4:c.1351C>T	NP_689996.4:p.Pro451Ser
NR_109778.1:n.1273C>T
XM_011511734.1:c.1471C>T	XP_011510036.1:p.Pro491Ser
XM_011511735.1:c.1429C>T	XP_011510037.1:p.Pro477Ser
XM_011511736.1:c.1393C>T	XP_011510038.1:p.Pro465Ser
XM_011511744.1:c.*83C>T	XP_011510046.1:n.*83C>T
XM_011511750.1:c.*18C>T	XP_011510052.1:n.*18C>T
XM_011511754.1:c.910C>T	XP_011510056.1:p.Pro304Ser
XM_011511755.1:c.901C>T	XP_011510057.1:p.Pro301Ser
XM_011511756.1:c.898C>T	XP_011510058.1:p.Pro300Ser
XR_923004.1:n.1983C>T
XR_923007.1:n.1693C>T
XR_923011.1:n.1794C>T
NM_001352824.1:c.790C>T	NP_001339753.1:p.Pro264Ser
XM_011511734.2:c.1471C>T	XP_011510036.1:p.Pro491Ser
XM_011511735.2:c.1429C>T	XP_011510037.1:p.Pro477Ser
XM_011511736.2:c.1393C>T	XP_011510038.1:p.Pro465Ser
XM_011511744.2:c.*83C>T	XP_011510046.1:n.*83C>T
XM_011511750.3:c.*18C>T	XP_011510052.1:n.*18C>T
XM_011511756.2:c.898C>T	XP_011510058.1:p.Pro300Ser
XM_024453102.1:c.1243C>T	XP_024308870.1:p.Pro415Ser
XR_001738918.2:n.1725C>T
XR_001738919.2:n.1659C>T
XR_923004.3:n.1982C>T
XR_923007.3:n.1692C>T
XR_923011.3:n.1793C>T
NM_152783.5:c.1351C>T MANE Select	NP_689996.4:p.Pro451Ser
NM_001287249.2:c.949C>T	NP_001274178.1:p.Pro317Ser
NM_001352824.2:c.790C>T	NP_001339753.1:p.Pro264Ser
NR_109778.2:n.1222C>T