Canonical Allele Identifier: CA351412927

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1398541320
• MyVariant Identifiers: chr2:g.242707139C>A (hg19) ; chr2:g.241767724C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767724C>A , CM000664.2:g.241767724C>A	GRCh38
NC_000002.11:g.242707139C>A , CM000664.1:g.242707139C>A	GRCh37
NC_000002.10:g.242355812C>A	NCBI36
NG_012012.1:g.38110C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1321C>A MANE Select	ENSP00000315351.4:p.His441Asn
ENST00000321264.8:c.1321C>A	ENSP00000315351.4:p.His441Asn
ENST00000400769.6:c.*71C>A	ENSP00000383580.2:n.*71C>A
ENST00000403782.5:c.919C>A	ENSP00000384723.1:p.His307Asn
ENST00000436747.5:c.*2557C>A	ENSP00000400212.1:n.*2557C>A
ENST00000445308.1:c.717C>A
ENST00000468064.5:n.1211C>A
ENST00000470343.5:n.802C>A
ENST00000473126.1:n.520C>A
ENST00000486953.5:n.1145C>A
ENST00000610344.1:c.*165C>A	ENSP00000481906.1:n.*165C>A
NM_001287249.1:c.919C>A	NP_001274178.1:p.His307Asn
NM_152783.4:c.1321C>A	NP_689996.4:p.His441Asn
NR_109778.1:n.1243C>A
XM_011511734.1:c.1441C>A	XP_011510036.1:p.His481Asn
XM_011511735.1:c.1399C>A	XP_011510037.1:p.His467Asn
XM_011511736.1:c.1363C>A	XP_011510038.1:p.His455Asn
XM_011511744.1:c.*53C>A	XP_011510046.1:n.*53C>A
XM_011511750.1:c.1233C>A	XP_011510052.1:p.Cys411Ter
XM_011511754.1:c.880C>A	XP_011510056.1:p.His294Asn
XM_011511755.1:c.871C>A	XP_011510057.1:p.His291Asn
XM_011511756.1:c.868C>A	XP_011510058.1:p.His290Asn
XR_923004.1:n.1953C>A
XR_923007.1:n.1663C>A
XR_923011.1:n.1764C>A
NM_001352824.1:c.760C>A	NP_001339753.1:p.His254Asn
XM_011511734.2:c.1441C>A	XP_011510036.1:p.His481Asn
XM_011511735.2:c.1399C>A	XP_011510037.1:p.His467Asn
XM_011511736.2:c.1363C>A	XP_011510038.1:p.His455Asn
XM_011511744.2:c.*53C>A	XP_011510046.1:n.*53C>A
XM_011511750.3:c.1233C>A	XP_011510052.1:p.Cys411Ter
XM_011511756.2:c.868C>A	XP_011510058.1:p.His290Asn
XM_024453102.1:c.1213C>A	XP_024308870.1:p.His405Asn
XR_001738918.2:n.1695C>A
XR_001738919.2:n.1629C>A
XR_923004.3:n.1952C>A
XR_923007.3:n.1662C>A
XR_923011.3:n.1763C>A
NM_152783.5:c.1321C>A MANE Select	NP_689996.4:p.His441Asn
NM_001287249.2:c.919C>A	NP_001274178.1:p.His307Asn
NM_001352824.2:c.760C>A	NP_001339753.1:p.His254Asn
NR_109778.2:n.1192C>A