Canonical Allele Identifier: CA351413118

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767791-A-C
• MyVariant Identifiers: chr2:g.242707206A>C (hg19) ; chr2:g.241767791A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767791A>C , CM000664.2:g.241767791A>C	GRCh38
NC_000002.11:g.242707206A>C , CM000664.1:g.242707206A>C	GRCh37
NC_000002.10:g.242355879A>C	NCBI36
NG_012012.1:g.38177A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1388A>C MANE Select	ENSP00000315351.4:p.Glu463Ala
ENST00000321264.8:c.1388A>C	ENSP00000315351.4:p.Glu463Ala
ENST00000400769.6:c.*138A>C	ENSP00000383580.2:n.*138A>C
ENST00000403782.5:c.986A>C	ENSP00000384723.1:p.Glu329Ala
ENST00000436747.5:c.*2624A>C	ENSP00000400212.1:n.*2624A>C
ENST00000445308.1:c.784A>C
ENST00000468064.5:n.1278A>C
ENST00000470343.5:n.869A>C
ENST00000473126.1:n.587A>C
ENST00000486953.5:n.1212A>C
ENST00000610344.1:c.*232A>C	ENSP00000481906.1:n.*232A>C
NM_001287249.1:c.986A>C	NP_001274178.1:p.Glu329Ala
NM_152783.4:c.1388A>C	NP_689996.4:p.Glu463Ala
NR_109778.1:n.1310A>C
XM_011511734.1:c.1508A>C	XP_011510036.1:p.Glu503Ala
XM_011511735.1:c.1466A>C	XP_011510037.1:p.Glu489Ala
XM_011511736.1:c.1430A>C	XP_011510038.1:p.Glu477Ala
XM_011511744.1:c.*120A>C	XP_011510046.1:n.*120A>C
XM_011511750.1:c.*55A>C	XP_011510052.1:n.*55A>C
XM_011511754.1:c.947A>C	XP_011510056.1:p.Glu316Ala
XM_011511755.1:c.938A>C	XP_011510057.1:p.Glu313Ala
XM_011511756.1:c.935A>C	XP_011510058.1:p.Glu312Ala
XR_923004.1:n.2020A>C
XR_923007.1:n.1730A>C
XR_923011.1:n.1831A>C
NM_001352824.1:c.827A>C	NP_001339753.1:p.Glu276Ala
XM_011511734.2:c.1508A>C	XP_011510036.1:p.Glu503Ala
XM_011511735.2:c.1466A>C	XP_011510037.1:p.Glu489Ala
XM_011511736.2:c.1430A>C	XP_011510038.1:p.Glu477Ala
XM_011511750.3:c.*55A>C	XP_011510052.1:n.*55A>C
XM_011511756.2:c.935A>C	XP_011510058.1:p.Glu312Ala
XM_024453102.1:c.1280A>C	XP_024308870.1:p.Glu427Ala
XR_001738918.2:n.1762A>C
XR_001738919.2:n.1696A>C
XR_923004.3:n.2019A>C
XR_923007.3:n.1729A>C
XR_923011.3:n.1830A>C
NM_152783.5:c.1388A>C MANE Select	NP_689996.4:p.Glu463Ala
NM_001287249.2:c.986A>C	NP_001274178.1:p.Glu329Ala
NM_001352824.2:c.827A>C	NP_001339753.1:p.Glu276Ala
NR_109778.2:n.1259A>C