Canonical Allele Identifier: CA351413130

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707210G>A (hg19) ; chr2:g.241767795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767795G>A , CM000664.2:g.241767795G>A	GRCh38
NC_000002.11:g.242707210G>A , CM000664.1:g.242707210G>A	GRCh37
NC_000002.10:g.242355883G>A	NCBI36
NG_012012.1:g.38181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1392G>A MANE Select	ENSP00000315351.4:p.Trp464Ter
ENST00000321264.8:c.1392G>A	ENSP00000315351.4:p.Trp464Ter
ENST00000400769.6:c.*142G>A	ENSP00000383580.2:n.*142G>A
ENST00000403782.5:c.990G>A	ENSP00000384723.1:p.Trp330Ter
ENST00000436747.5:c.*2628G>A	ENSP00000400212.1:n.*2628G>A
ENST00000445308.1:c.788G>A
ENST00000468064.5:n.1282G>A
ENST00000470343.5:n.873G>A
ENST00000473126.1:n.591G>A
ENST00000486953.5:n.1216G>A
ENST00000610344.1:c.*236G>A	ENSP00000481906.1:n.*236G>A
NM_001287249.1:c.990G>A	NP_001274178.1:p.Trp330Ter
NM_152783.4:c.1392G>A	NP_689996.4:p.Trp464Ter
NR_109778.1:n.1314G>A
XM_011511734.1:c.1512G>A	XP_011510036.1:p.Trp504Ter
XM_011511735.1:c.1470G>A	XP_011510037.1:p.Trp490Ter
XM_011511736.1:c.1434G>A	XP_011510038.1:p.Trp478Ter
XM_011511744.1:c.*124G>A	XP_011510046.1:n.*124G>A
XM_011511750.1:c.*59G>A	XP_011510052.1:n.*59G>A
XM_011511754.1:c.951G>A	XP_011510056.1:p.Trp317Ter
XM_011511755.1:c.942G>A	XP_011510057.1:p.Trp314Ter
XM_011511756.1:c.939G>A	XP_011510058.1:p.Trp313Ter
XR_923004.1:n.2024G>A
XR_923007.1:n.1734G>A
XR_923011.1:n.1835G>A
NM_001352824.1:c.831G>A	NP_001339753.1:p.Trp277Ter
XM_011511734.2:c.1512G>A	XP_011510036.1:p.Trp504Ter
XM_011511735.2:c.1470G>A	XP_011510037.1:p.Trp490Ter
XM_011511736.2:c.1434G>A	XP_011510038.1:p.Trp478Ter
XM_011511750.3:c.*59G>A	XP_011510052.1:n.*59G>A
XM_011511756.2:c.939G>A	XP_011510058.1:p.Trp313Ter
XM_024453102.1:c.1284G>A	XP_024308870.1:p.Trp428Ter
XR_001738918.2:n.1766G>A
XR_001738919.2:n.1700G>A
XR_923004.3:n.2023G>A
XR_923007.3:n.1733G>A
XR_923011.3:n.1834G>A
NM_152783.5:c.1392G>A MANE Select	NP_689996.4:p.Trp464Ter
NM_001287249.2:c.990G>A	NP_001274178.1:p.Trp330Ter
NM_001352824.2:c.831G>A	NP_001339753.1:p.Trp277Ter
NR_109778.2:n.1263G>A