Canonical Allele Identifier: CA351412869

Gene: D2HGDH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1309G>T MANE Select	ENSP00000315351.4:p.Asp437Tyr
ENST00000321264.8:c.1309G>T	ENSP00000315351.4:p.Asp437Tyr
ENST00000400769.6:c.*59G>T	ENSP00000383580.2:n.*59G>T
ENST00000403782.5:c.907G>T	ENSP00000384723.1:p.Asp303Tyr
ENST00000436747.5:c.*2545G>T	ENSP00000400212.1:n.*2545G>T
ENST00000445308.1:c.705G>T
ENST00000468064.5:n.1199G>T
ENST00000470343.5:n.790G>T
ENST00000473126.1:n.508G>T
ENST00000486953.5:n.1134-1G>T
ENST00000610344.1:c.*153G>T	ENSP00000481906.1:n.*153G>T
NM_001287249.1:c.907G>T	NP_001274178.1:p.Asp303Tyr
NM_152783.4:c.1309G>T	NP_689996.4:p.Asp437Tyr
NR_109778.1:n.1231G>T
XM_011511734.1:c.1429G>T	XP_011510036.1:p.Asp477Tyr
XM_011511735.1:c.1387G>T	XP_011510037.1:p.Asp463Tyr
XM_011511736.1:c.1351G>T	XP_011510038.1:p.Asp451Tyr
XM_011511744.1:c.*41G>T	XP_011510046.1:n.*41G>T
XM_011511750.1:c.1221G>T	XP_011510052.1:p.Glu407Asp
XM_011511754.1:c.868G>T	XP_011510056.1:p.Asp290Tyr
XM_011511755.1:c.859G>T	XP_011510057.1:p.Asp287Tyr
XM_011511756.1:c.856G>T	XP_011510058.1:p.Asp286Tyr
XR_923004.1:n.1941G>T
XR_923007.1:n.1651G>T
XR_923011.1:n.1752G>T
NM_001352824.1:c.748G>T	NP_001339753.1:p.Asp250Tyr
XM_011511734.2:c.1429G>T	XP_011510036.1:p.Asp477Tyr
XM_011511735.2:c.1387G>T	XP_011510037.1:p.Asp463Tyr
XM_011511736.2:c.1351G>T	XP_011510038.1:p.Asp451Tyr
XM_011511744.2:c.*41G>T	XP_011510046.1:n.*41G>T
XM_011511750.3:c.1221G>T	XP_011510052.1:p.Glu407Asp
XM_011511756.2:c.856G>T	XP_011510058.1:p.Asp286Tyr
XM_024453102.1:c.1201G>T	XP_024308870.1:p.Asp401Tyr
XR_001738918.2:n.1683G>T
XR_001738919.2:n.1617G>T
XR_923004.3:n.1940G>T
XR_923007.3:n.1650G>T
XR_923011.3:n.1751G>T
NM_152783.5:c.1309G>T MANE Select	NP_689996.4:p.Asp437Tyr
NM_001287249.2:c.907G>T	NP_001274178.1:p.Asp303Tyr
NM_001352824.2:c.748G>T	NP_001339753.1:p.Asp250Tyr
NR_109778.2:n.1180G>T