Canonical Allele Identifier: CA351413131

Gene: D2HGDH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1392G>C MANE Select	ENSP00000315351.4:p.Trp464Cys
ENST00000321264.8:c.1392G>C	ENSP00000315351.4:p.Trp464Cys
ENST00000400769.6:c.*142G>C	ENSP00000383580.2:n.*142G>C
ENST00000403782.5:c.990G>C	ENSP00000384723.1:p.Trp330Cys
ENST00000436747.5:c.*2628G>C	ENSP00000400212.1:n.*2628G>C
ENST00000445308.1:c.788G>C
ENST00000468064.5:n.1282G>C
ENST00000470343.5:n.873G>C
ENST00000473126.1:n.591G>C
ENST00000486953.5:n.1216G>C
ENST00000610344.1:c.*236G>C	ENSP00000481906.1:n.*236G>C
NM_001287249.1:c.990G>C	NP_001274178.1:p.Trp330Cys
NM_152783.4:c.1392G>C	NP_689996.4:p.Trp464Cys
NR_109778.1:n.1314G>C
XM_011511734.1:c.1512G>C	XP_011510036.1:p.Trp504Cys
XM_011511735.1:c.1470G>C	XP_011510037.1:p.Trp490Cys
XM_011511736.1:c.1434G>C	XP_011510038.1:p.Trp478Cys
XM_011511744.1:c.*124G>C	XP_011510046.1:n.*124G>C
XM_011511750.1:c.*59G>C	XP_011510052.1:n.*59G>C
XM_011511754.1:c.951G>C	XP_011510056.1:p.Trp317Cys
XM_011511755.1:c.942G>C	XP_011510057.1:p.Trp314Cys
XM_011511756.1:c.939G>C	XP_011510058.1:p.Trp313Cys
XR_923004.1:n.2024G>C
XR_923007.1:n.1734G>C
XR_923011.1:n.1835G>C
NM_001352824.1:c.831G>C	NP_001339753.1:p.Trp277Cys
XM_011511734.2:c.1512G>C	XP_011510036.1:p.Trp504Cys
XM_011511735.2:c.1470G>C	XP_011510037.1:p.Trp490Cys
XM_011511736.2:c.1434G>C	XP_011510038.1:p.Trp478Cys
XM_011511750.3:c.*59G>C	XP_011510052.1:n.*59G>C
XM_011511756.2:c.939G>C	XP_011510058.1:p.Trp313Cys
XM_024453102.1:c.1284G>C	XP_024308870.1:p.Trp428Cys
XR_001738918.2:n.1766G>C
XR_001738919.2:n.1700G>C
XR_923004.3:n.2023G>C
XR_923007.3:n.1733G>C
XR_923011.3:n.1834G>C
NM_152783.5:c.1392G>C MANE Select	NP_689996.4:p.Trp464Cys
NM_001287249.2:c.990G>C	NP_001274178.1:p.Trp330Cys
NM_001352824.2:c.831G>C	NP_001339753.1:p.Trp277Cys
NR_109778.2:n.1263G>C