Canonical Allele Identifier: CA1044158543

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1699269500
• gnomAD v3: 2-241767729-CA-C
• gnomAD v4: 2-241767729-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767731del , CM000664.2:g.241767731del	GRCh38
NC_000002.11:g.242707146del , CM000664.1:g.242707146del	GRCh37
NC_000002.10:g.242355819del	NCBI36
NG_012012.1:g.38117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1328del MANE Select	ENSP00000315351.4:p.Asn443MetfsTer2
ENST00000321264.8:c.1328del	ENSP00000315351.4:p.Asn443MetfsTer2
ENST00000400769.6:c.*78del	ENSP00000383580.2:n.*78del
ENST00000403782.5:c.926del	ENSP00000384723.1:p.Asn309MetfsTer2
ENST00000436747.5:c.*2564del	ENSP00000400212.1:n.*2564del
ENST00000445308.1:c.724del
ENST00000468064.5:n.1218del
ENST00000470343.5:n.809del
ENST00000473126.1:n.527del
ENST00000486953.5:n.1152del
ENST00000610344.1:c.*172del	ENSP00000481906.1:n.*172del
NM_001287249.1:c.926del	NP_001274178.1:p.Asn309MetfsTer2
NM_152783.4:c.1328del	NP_689996.4:p.Asn443MetfsTer2
NR_109778.1:n.1250del
XM_011511734.1:c.1448del	XP_011510036.1:p.Asn483MetfsTer2
XM_011511735.1:c.1406del	XP_011510037.1:p.Asn469MetfsTer2
XM_011511736.1:c.1370del	XP_011510038.1:p.Asn457MetfsTer2
XM_011511744.1:c.*60del	XP_011510046.1:n.*60del
XM_011511750.1:c.1240del	XP_011510052.1:p.Met414CysfsTer?
XM_011511754.1:c.887del	XP_011510056.1:p.Asn296MetfsTer2
XM_011511755.1:c.878del	XP_011510057.1:p.Asn293MetfsTer2
XM_011511756.1:c.875del	XP_011510058.1:p.Asn292MetfsTer2
XR_923004.1:n.1960del
XR_923007.1:n.1670del
XR_923011.1:n.1771del
NM_001352824.1:c.767del	NP_001339753.1:p.Asn256MetfsTer2
XM_011511734.2:c.1448del	XP_011510036.1:p.Asn483MetfsTer2
XM_011511735.2:c.1406del	XP_011510037.1:p.Asn469MetfsTer2
XM_011511736.2:c.1370del	XP_011510038.1:p.Asn457MetfsTer2
XM_011511744.2:c.*60del	XP_011510046.1:n.*60del
XM_011511750.3:c.1240del	XP_011510052.1:p.Met414CysfsTer?
XM_011511756.2:c.875del	XP_011510058.1:p.Asn292MetfsTer2
XM_024453102.1:c.1220del	XP_024308870.1:p.Asn407MetfsTer2
XR_001738918.2:n.1702del
XR_001738919.2:n.1636del
XR_923004.3:n.1959del
XR_923007.3:n.1669del
XR_923011.3:n.1770del
NM_152783.5:c.1328del MANE Select	NP_689996.4:p.Asn443MetfsTer2
NM_001287249.2:c.926del	NP_001274178.1:p.Asn309MetfsTer2
NM_001352824.2:c.767del	NP_001339753.1:p.Asn256MetfsTer2
NR_109778.2:n.1199del