Canonical Allele Identifier: CA1339784158

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1699238387
• gnomAD v3: 2-241767507-T-TGGGGAGAGAAGC
• gnomAD v4: 2-241767507-T-TGGGGAGAGAAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767508_241767519dup , CM000664.2:g.241767508_241767519dup	GRCh38
NC_000002.11:g.242706923_242706934dup , CM000664.1:g.242706923_242706934dup	GRCh37
NC_000002.10:g.242355596_242355607dup	NCBI36
NG_012012.1:g.37894_37905dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-202_1307-191dup MANE Select	ENSP00000315351.4:n.1307-202_1307-191dup
ENST00000321264.8:c.1307-202_1307-191dup	ENSP00000315351.4:n.1307-202_1307-191dup
ENST00000400769.6:c.*57-202_*57-191dup	ENSP00000383580.2:n.*57-202_*57-191dup
ENST00000403782.5:c.905-202_905-191dup	ENSP00000384723.1:n.905-202_905-191dup
ENST00000436747.5:c.*2543-202_*2543-191dup	ENSP00000400212.1:n.*2543-202_*2543-191dup
ENST00000445308.1:c.703-202_703-191dup
ENST00000468064.5:n.1197-202_1197-191dup
ENST00000470343.5:n.788-202_788-191dup
ENST00000473126.1:n.506-202_506-191dup
ENST00000486953.5:n.1134-205_1134-194dup
ENST00000610344.1:c.*151-202_*151-191dup	ENSP00000481906.1:n.*151-202_*151-191dup
NM_001287249.1:c.905-202_905-191dup	NP_001274178.1:n.905-202_905-191dup
NM_152783.4:c.1307-202_1307-191dup	NP_689996.4:n.1307-202_1307-191dup
NR_109778.1:n.1229-202_1229-191dup
XM_011511734.1:c.1427-202_1427-191dup	XP_011510036.1:n.1427-202_1427-191dup
XM_011511735.1:c.1385-202_1385-191dup	XP_011510037.1:n.1385-202_1385-191dup
XM_011511736.1:c.1349-202_1349-191dup	XP_011510038.1:n.1349-202_1349-191dup
XM_011511744.1:c.*39-202_*39-191dup	XP_011510046.1:n.*39-202_*39-191dup
XM_011511750.1:c.1219-202_1219-191dup	XP_011510052.1:n.1219-202_1219-191dup
XM_011511754.1:c.866-202_866-191dup	XP_011510056.1:n.866-202_866-191dup
XM_011511755.1:c.857-202_857-191dup	XP_011510057.1:n.857-202_857-191dup
XM_011511756.1:c.854-202_854-191dup	XP_011510058.1:n.854-202_854-191dup
XR_923004.1:n.1939-202_1939-191dup
XR_923007.1:n.1649-202_1649-191dup
XR_923011.1:n.1750-202_1750-191dup
NM_001352824.1:c.746-202_746-191dup	NP_001339753.1:n.746-202_746-191dup
XM_011511734.2:c.1427-202_1427-191dup	XP_011510036.1:n.1427-202_1427-191dup
XM_011511735.2:c.1385-202_1385-191dup	XP_011510037.1:n.1385-202_1385-191dup
XM_011511736.2:c.1349-202_1349-191dup	XP_011510038.1:n.1349-202_1349-191dup
XM_011511744.2:c.*39-202_*39-191dup	XP_011510046.1:n.*39-202_*39-191dup
XM_011511750.3:c.1219-202_1219-191dup	XP_011510052.1:n.1219-202_1219-191dup
XM_011511756.2:c.854-202_854-191dup	XP_011510058.1:n.854-202_854-191dup
XM_024453102.1:c.1199-202_1199-191dup	XP_024308870.1:n.1199-202_1199-191dup
XR_001738918.2:n.1681-202_1681-191dup
XR_001738919.2:n.1615-202_1615-191dup
XR_923004.3:n.1938-202_1938-191dup
XR_923007.3:n.1648-202_1648-191dup
XR_923011.3:n.1749-202_1749-191dup
NM_152783.5:c.1307-202_1307-191dup MANE Select	NP_689996.4:n.1307-202_1307-191dup
NM_001287249.2:c.905-202_905-191dup	NP_001274178.1:n.905-202_905-191dup
NM_001352824.2:c.746-202_746-191dup	NP_001339753.1:n.746-202_746-191dup
NR_109778.2:n.1178-202_1178-191dup