Canonical Allele Identifier: CA351413114

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707203A>T (hg19) ; chr2:g.241767788A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767788A>T , CM000664.2:g.241767788A>T	GRCh38
NC_000002.11:g.242707203A>T , CM000664.1:g.242707203A>T	GRCh37
NC_000002.10:g.242355876A>T	NCBI36
NG_012012.1:g.38174A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1385A>T MANE Select	ENSP00000315351.4:p.Tyr462Phe
ENST00000321264.8:c.1385A>T	ENSP00000315351.4:p.Tyr462Phe
ENST00000400769.6:c.*135A>T	ENSP00000383580.2:n.*135A>T
ENST00000403782.5:c.983A>T	ENSP00000384723.1:p.Tyr328Phe
ENST00000436747.5:c.*2621A>T	ENSP00000400212.1:n.*2621A>T
ENST00000445308.1:c.781A>T
ENST00000468064.5:n.1275A>T
ENST00000470343.5:n.866A>T
ENST00000473126.1:n.584A>T
ENST00000486953.5:n.1209A>T
ENST00000610344.1:c.*229A>T	ENSP00000481906.1:n.*229A>T
NM_001287249.1:c.983A>T	NP_001274178.1:p.Tyr328Phe
NM_152783.4:c.1385A>T	NP_689996.4:p.Tyr462Phe
NR_109778.1:n.1307A>T
XM_011511734.1:c.1505A>T	XP_011510036.1:p.Tyr502Phe
XM_011511735.1:c.1463A>T	XP_011510037.1:p.Tyr488Phe
XM_011511736.1:c.1427A>T	XP_011510038.1:p.Tyr476Phe
XM_011511744.1:c.*117A>T	XP_011510046.1:n.*117A>T
XM_011511750.1:c.*52A>T	XP_011510052.1:n.*52A>T
XM_011511754.1:c.944A>T	XP_011510056.1:p.Tyr315Phe
XM_011511755.1:c.935A>T	XP_011510057.1:p.Tyr312Phe
XM_011511756.1:c.932A>T	XP_011510058.1:p.Tyr311Phe
XR_923004.1:n.2017A>T
XR_923007.1:n.1727A>T
XR_923011.1:n.1828A>T
NM_001352824.1:c.824A>T	NP_001339753.1:p.Tyr275Phe
XM_011511734.2:c.1505A>T	XP_011510036.1:p.Tyr502Phe
XM_011511735.2:c.1463A>T	XP_011510037.1:p.Tyr488Phe
XM_011511736.2:c.1427A>T	XP_011510038.1:p.Tyr476Phe
XM_011511750.3:c.*52A>T	XP_011510052.1:n.*52A>T
XM_011511756.2:c.932A>T	XP_011510058.1:p.Tyr311Phe
XM_024453102.1:c.1277A>T	XP_024308870.1:p.Tyr426Phe
XR_001738918.2:n.1759A>T
XR_001738919.2:n.1693A>T
XR_923004.3:n.2016A>T
XR_923007.3:n.1726A>T
XR_923011.3:n.1827A>T
NM_152783.5:c.1385A>T MANE Select	NP_689996.4:p.Tyr462Phe
NM_001287249.2:c.983A>T	NP_001274178.1:p.Tyr328Phe
NM_001352824.2:c.824A>T	NP_001339753.1:p.Tyr275Phe
NR_109778.2:n.1256A>T