Canonical Allele Identifier: CA2222222

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 2059066
• ClinVar RCV Id: RCV002933541
• dbSNP Id: rs141809405
• ExAC: 2:242707212 C / T
• gnomAD v2: 2-242707212-C-T
• gnomAD v3: 2-241767797-C-T
• gnomAD v4: 2-241767797-C-T
• MyVariant Identifiers: chr2:g.242707212C>T (hg19) ; chr2:g.241767797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767797C>T , CM000664.2:g.241767797C>T	GRCh38
NC_000002.11:g.242707212C>T , CM000664.1:g.242707212C>T	GRCh37
NC_000002.10:g.242355885C>T	NCBI36
NG_012012.1:g.38183C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1394C>T MANE Select	ENSP00000315351.4:p.Thr465Met
ENST00000321264.8:c.1394C>T	ENSP00000315351.4:p.Thr465Met
ENST00000400769.6:c.*144C>T	ENSP00000383580.2:n.*144C>T
ENST00000403782.5:c.992C>T	ENSP00000384723.1:p.Thr331Met
ENST00000436747.5:c.*2630C>T	ENSP00000400212.1:n.*2630C>T
ENST00000445308.1:c.790C>T
ENST00000468064.5:n.1284C>T
ENST00000470343.5:n.875C>T
ENST00000473126.1:n.593C>T
ENST00000486953.5:n.1218C>T
ENST00000610344.1:c.*238C>T	ENSP00000481906.1:n.*238C>T
NM_001287249.1:c.992C>T	NP_001274178.1:p.Thr331Met
NM_152783.4:c.1394C>T	NP_689996.4:p.Thr465Met
NR_109778.1:n.1316C>T
XM_011511734.1:c.1514C>T	XP_011510036.1:p.Thr505Met
XM_011511735.1:c.1472C>T	XP_011510037.1:p.Thr491Met
XM_011511736.1:c.1436C>T	XP_011510038.1:p.Thr479Met
XM_011511744.1:c.*126C>T	XP_011510046.1:n.*126C>T
XM_011511750.1:c.*61C>T	XP_011510052.1:n.*61C>T
XM_011511754.1:c.953C>T	XP_011510056.1:p.Thr318Met
XM_011511755.1:c.944C>T	XP_011510057.1:p.Thr315Met
XM_011511756.1:c.941C>T	XP_011510058.1:p.Thr314Met
XR_923004.1:n.2026C>T
XR_923007.1:n.1736C>T
XR_923011.1:n.1837C>T
NM_001352824.1:c.833C>T	NP_001339753.1:p.Thr278Met
XM_011511734.2:c.1514C>T	XP_011510036.1:p.Thr505Met
XM_011511735.2:c.1472C>T	XP_011510037.1:p.Thr491Met
XM_011511736.2:c.1436C>T	XP_011510038.1:p.Thr479Met
XM_011511750.3:c.*61C>T	XP_011510052.1:n.*61C>T
XM_011511756.2:c.941C>T	XP_011510058.1:p.Thr314Met
XM_024453102.1:c.1286C>T	XP_024308870.1:p.Thr429Met
XR_001738918.2:n.1768C>T
XR_001738919.2:n.1702C>T
XR_923004.3:n.2025C>T
XR_923007.3:n.1735C>T
XR_923011.3:n.1836C>T
NM_152783.5:c.1394C>T MANE Select	NP_689996.4:p.Thr465Met
NM_001287249.2:c.992C>T	NP_001274178.1:p.Thr331Met
NM_001352824.2:c.833C>T	NP_001339753.1:p.Thr278Met
NR_109778.2:n.1265C>T