Canonical Allele Identifier: CA2222219

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 723735
• ClinVar RCV Id: RCV000897534 ; RCV001818728
• dbSNP Id: rs201294258
• ExAC: 2:242707204 C / T
• gnomAD v2: 2-242707204-C-T
• gnomAD v3: 2-241767789-C-T
• gnomAD v4: 2-241767789-C-T
• MyVariant Identifiers: chr2:g.242707204C>T (hg19) ; chr2:g.241767789C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767789C>T , CM000664.2:g.241767789C>T	GRCh38
NC_000002.11:g.242707204C>T , CM000664.1:g.242707204C>T	GRCh37
NC_000002.10:g.242355877C>T	NCBI36
NG_012012.1:g.38175C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1386C>T MANE Select	ENSP00000315351.4:p.Tyr462=
ENST00000321264.8:c.1386C>T	ENSP00000315351.4:p.Tyr462=
ENST00000400769.6:c.*136C>T	ENSP00000383580.2:n.*136C>T
ENST00000403782.5:c.984C>T	ENSP00000384723.1:p.Tyr328=
ENST00000436747.5:c.*2622C>T	ENSP00000400212.1:n.*2622C>T
ENST00000445308.1:c.782C>T
ENST00000468064.5:n.1276C>T
ENST00000470343.5:n.867C>T
ENST00000473126.1:n.585C>T
ENST00000486953.5:n.1210C>T
ENST00000610344.1:c.*230C>T	ENSP00000481906.1:n.*230C>T
NM_001287249.1:c.984C>T	NP_001274178.1:p.Tyr328=
NM_152783.4:c.1386C>T	NP_689996.4:p.Tyr462=
NR_109778.1:n.1308C>T
XM_011511734.1:c.1506C>T	XP_011510036.1:p.Tyr502=
XM_011511735.1:c.1464C>T	XP_011510037.1:p.Tyr488=
XM_011511736.1:c.1428C>T	XP_011510038.1:p.Tyr476=
XM_011511744.1:c.*118C>T	XP_011510046.1:n.*118C>T
XM_011511750.1:c.*53C>T	XP_011510052.1:n.*53C>T
XM_011511754.1:c.945C>T	XP_011510056.1:p.Tyr315=
XM_011511755.1:c.936C>T	XP_011510057.1:p.Tyr312=
XM_011511756.1:c.933C>T	XP_011510058.1:p.Tyr311=
XR_923004.1:n.2018C>T
XR_923007.1:n.1728C>T
XR_923011.1:n.1829C>T
NM_001352824.1:c.825C>T	NP_001339753.1:p.Tyr275=
XM_011511734.2:c.1506C>T	XP_011510036.1:p.Tyr502=
XM_011511735.2:c.1464C>T	XP_011510037.1:p.Tyr488=
XM_011511736.2:c.1428C>T	XP_011510038.1:p.Tyr476=
XM_011511750.3:c.*53C>T	XP_011510052.1:n.*53C>T
XM_011511756.2:c.933C>T	XP_011510058.1:p.Tyr311=
XM_024453102.1:c.1278C>T	XP_024308870.1:p.Tyr426=
XR_001738918.2:n.1760C>T
XR_001738919.2:n.1694C>T
XR_923004.3:n.2017C>T
XR_923007.3:n.1727C>T
XR_923011.3:n.1828C>T
NM_152783.5:c.1386C>T MANE Select	NP_689996.4:p.Tyr462=
NM_001287249.2:c.984C>T	NP_001274178.1:p.Tyr328=
NM_001352824.2:c.825C>T	NP_001339753.1:p.Tyr275=
NR_109778.2:n.1257C>T