Canonical Allele Identifier: CA351412864

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767712-G-A
• MyVariant Identifiers: chr2:g.242707127G>A (hg19) ; chr2:g.241767712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767712G>A , CM000664.2:g.241767712G>A	GRCh38
NC_000002.11:g.242707127G>A , CM000664.1:g.242707127G>A	GRCh37
NC_000002.10:g.242355800G>A	NCBI36
NG_012012.1:g.38098G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1309G>A MANE Select	ENSP00000315351.4:p.Asp437Asn
ENST00000321264.8:c.1309G>A	ENSP00000315351.4:p.Asp437Asn
ENST00000400769.6:c.*59G>A	ENSP00000383580.2:n.*59G>A
ENST00000403782.5:c.907G>A	ENSP00000384723.1:p.Asp303Asn
ENST00000436747.5:c.*2545G>A	ENSP00000400212.1:n.*2545G>A
ENST00000445308.1:c.705G>A
ENST00000468064.5:n.1199G>A
ENST00000470343.5:n.790G>A
ENST00000473126.1:n.508G>A
ENST00000486953.5:n.1134-1G>A
ENST00000610344.1:c.*153G>A	ENSP00000481906.1:n.*153G>A
NM_001287249.1:c.907G>A	NP_001274178.1:p.Asp303Asn
NM_152783.4:c.1309G>A	NP_689996.4:p.Asp437Asn
NR_109778.1:n.1231G>A
XM_011511734.1:c.1429G>A	XP_011510036.1:p.Asp477Asn
XM_011511735.1:c.1387G>A	XP_011510037.1:p.Asp463Asn
XM_011511736.1:c.1351G>A	XP_011510038.1:p.Asp451Asn
XM_011511744.1:c.*41G>A	XP_011510046.1:n.*41G>A
XM_011511750.1:c.1221G>A	XP_011510052.1:p.Glu407=
XM_011511754.1:c.868G>A	XP_011510056.1:p.Asp290Asn
XM_011511755.1:c.859G>A	XP_011510057.1:p.Asp287Asn
XM_011511756.1:c.856G>A	XP_011510058.1:p.Asp286Asn
XR_923004.1:n.1941G>A
XR_923007.1:n.1651G>A
XR_923011.1:n.1752G>A
NM_001352824.1:c.748G>A	NP_001339753.1:p.Asp250Asn
XM_011511734.2:c.1429G>A	XP_011510036.1:p.Asp477Asn
XM_011511735.2:c.1387G>A	XP_011510037.1:p.Asp463Asn
XM_011511736.2:c.1351G>A	XP_011510038.1:p.Asp451Asn
XM_011511744.2:c.*41G>A	XP_011510046.1:n.*41G>A
XM_011511750.3:c.1221G>A	XP_011510052.1:p.Glu407=
XM_011511756.2:c.856G>A	XP_011510058.1:p.Asp286Asn
XM_024453102.1:c.1201G>A	XP_024308870.1:p.Asp401Asn
XR_001738918.2:n.1683G>A
XR_001738919.2:n.1617G>A
XR_923004.3:n.1940G>A
XR_923007.3:n.1650G>A
XR_923011.3:n.1751G>A
NM_152783.5:c.1309G>A MANE Select	NP_689996.4:p.Asp437Asn
NM_001287249.2:c.907G>A	NP_001274178.1:p.Asp303Asn
NM_001352824.2:c.748G>A	NP_001339753.1:p.Asp250Asn
NR_109778.2:n.1180G>A