Canonical Allele Identifier: CA2222230

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 653495
• ClinVar RCV Id: RCV000809282
• dbSNP Id: rs369324431
• ExAC: 2:242707239 C / T
• gnomAD v2: 2-242707239-C-T
• gnomAD v3: 2-241767824-C-T
• gnomAD v4: 2-241767824-C-T
• MyVariant Identifiers: chr2:g.242707239C>T (hg19) ; chr2:g.241767824C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767824C>T , CM000664.2:g.241767824C>T	GRCh38
NC_000002.11:g.242707239C>T , CM000664.1:g.242707239C>T	GRCh37
NC_000002.10:g.242355912C>T	NCBI36
NG_012012.1:g.38210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1421C>T MANE Select	ENSP00000315351.4:p.Ala474Val
ENST00000321264.8:c.1421C>T	ENSP00000315351.4:p.Ala474Val
ENST00000400769.6:c.*171C>T	ENSP00000383580.2:n.*171C>T
ENST00000403782.5:c.1019C>T	ENSP00000384723.1:p.Ala340Val
ENST00000436747.5:c.*2657C>T	ENSP00000400212.1:n.*2657C>T
ENST00000445308.1:c.817C>T
ENST00000468064.5:n.1311C>T
ENST00000470343.5:n.902C>T
ENST00000473126.1:n.620C>T
ENST00000486953.5:n.1245C>T
ENST00000610344.1:c.*265C>T	ENSP00000481906.1:n.*265C>T
NM_001287249.1:c.1019C>T	NP_001274178.1:p.Ala340Val
NM_152783.4:c.1421C>T	NP_689996.4:p.Ala474Val
NR_109778.1:n.1343C>T
XM_011511734.1:c.1541C>T	XP_011510036.1:p.Ala514Val
XM_011511735.1:c.1499C>T	XP_011510037.1:p.Ala500Val
XM_011511736.1:c.1463C>T	XP_011510038.1:p.Ala488Val
XM_011511750.1:c.*88C>T	XP_011510052.1:n.*88C>T
XM_011511754.1:c.980C>T	XP_011510056.1:p.Ala327Val
XM_011511755.1:c.971C>T	XP_011510057.1:p.Ala324Val
XM_011511756.1:c.968C>T	XP_011510058.1:p.Ala323Val
XR_923004.1:n.2053C>T
XR_923007.1:n.1763C>T
XR_923011.1:n.1864C>T
NM_001352824.1:c.860C>T	NP_001339753.1:p.Ala287Val
XM_011511734.2:c.1541C>T	XP_011510036.1:p.Ala514Val
XM_011511735.2:c.1499C>T	XP_011510037.1:p.Ala500Val
XM_011511736.2:c.1463C>T	XP_011510038.1:p.Ala488Val
XM_011511750.3:c.*88C>T	XP_011510052.1:n.*88C>T
XM_011511756.2:c.968C>T	XP_011510058.1:p.Ala323Val
XM_024453102.1:c.1313C>T	XP_024308870.1:p.Ala438Val
XR_001738918.2:n.1795C>T
XR_001738919.2:n.1729C>T
XR_923004.3:n.2052C>T
XR_923007.3:n.1762C>T
XR_923011.3:n.1863C>T
NM_152783.5:c.1421C>T MANE Select	NP_689996.4:p.Ala474Val
NM_001287249.2:c.1019C>T	NP_001274178.1:p.Ala340Val
NM_001352824.2:c.860C>T	NP_001339753.1:p.Ala287Val
NR_109778.2:n.1292C>T