Canonical Allele Identifier: CA767066991

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1478663049
• gnomAD v4: 2-241767640-C-T
• MyVariant Identifiers: chr2:g.242707055C>T (hg19) ; chr2:g.241767640C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767640C>T , CM000664.2:g.241767640C>T	GRCh38
NC_000002.11:g.242707055C>T , CM000664.1:g.242707055C>T	GRCh37
NC_000002.10:g.242355728C>T	NCBI36
NG_012012.1:g.38026C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1307-70C>T MANE Select	ENSP00000315351.4:n.1307-70C>T
ENST00000321264.8:c.1307-70C>T	ENSP00000315351.4:n.1307-70C>T
ENST00000400769.6:c.*57-70C>T	ENSP00000383580.2:n.*57-70C>T
ENST00000403782.5:c.905-70C>T	ENSP00000384723.1:n.905-70C>T
ENST00000436747.5:c.*2543-70C>T	ENSP00000400212.1:n.*2543-70C>T
ENST00000445308.1:c.703-70C>T
ENST00000468064.5:n.1197-70C>T
ENST00000470343.5:n.788-70C>T
ENST00000473126.1:n.506-70C>T
ENST00000486953.5:n.1134-73C>T
ENST00000610344.1:c.*151-70C>T	ENSP00000481906.1:n.*151-70C>T
NM_001287249.1:c.905-70C>T	NP_001274178.1:n.905-70C>T
NM_152783.4:c.1307-70C>T	NP_689996.4:n.1307-70C>T
NR_109778.1:n.1229-70C>T
XM_011511734.1:c.1427-70C>T	XP_011510036.1:n.1427-70C>T
XM_011511735.1:c.1385-70C>T	XP_011510037.1:n.1385-70C>T
XM_011511736.1:c.1349-70C>T	XP_011510038.1:n.1349-70C>T
XM_011511744.1:c.*39-70C>T	XP_011510046.1:n.*39-70C>T
XM_011511750.1:c.1219-70C>T	XP_011510052.1:n.1219-70C>T
XM_011511754.1:c.866-70C>T	XP_011510056.1:n.866-70C>T
XM_011511755.1:c.857-70C>T	XP_011510057.1:n.857-70C>T
XM_011511756.1:c.854-70C>T	XP_011510058.1:n.854-70C>T
XR_923004.1:n.1939-70C>T
XR_923007.1:n.1649-70C>T
XR_923011.1:n.1750-70C>T
NM_001352824.1:c.746-70C>T	NP_001339753.1:n.746-70C>T
XM_011511734.2:c.1427-70C>T	XP_011510036.1:n.1427-70C>T
XM_011511735.2:c.1385-70C>T	XP_011510037.1:n.1385-70C>T
XM_011511736.2:c.1349-70C>T	XP_011510038.1:n.1349-70C>T
XM_011511744.2:c.*39-70C>T	XP_011510046.1:n.*39-70C>T
XM_011511750.3:c.1219-70C>T	XP_011510052.1:n.1219-70C>T
XM_011511756.2:c.854-70C>T	XP_011510058.1:n.854-70C>T
XM_024453102.1:c.1199-70C>T	XP_024308870.1:n.1199-70C>T
XR_001738918.2:n.1681-70C>T
XR_001738919.2:n.1615-70C>T
XR_923004.3:n.1938-70C>T
XR_923007.3:n.1648-70C>T
XR_923011.3:n.1749-70C>T
NM_152783.5:c.1307-70C>T MANE Select	NP_689996.4:n.1307-70C>T
NM_001287249.2:c.905-70C>T	NP_001274178.1:n.905-70C>T
NM_001352824.2:c.746-70C>T	NP_001339753.1:n.746-70C>T
NR_109778.2:n.1178-70C>T