Canonical Allele Identifier: CA2222217

Gene: D2HGDH

Linked Data

• dbSNP Id: rs771273753
• ExAC: 2:242707197 A / C
• gnomAD v2: 2-242707197-A-C
• gnomAD v4: 2-241767782-A-C
• MyVariant Identifiers: chr2:g.242707197A>C (hg19) ; chr2:g.241767782A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767782A>C , CM000664.2:g.241767782A>C	GRCh38
NC_000002.11:g.242707197A>C , CM000664.1:g.242707197A>C	GRCh37
NC_000002.10:g.242355870A>C	NCBI36
NG_012012.1:g.38168A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1379A>C MANE Select	ENSP00000315351.4:p.His460Pro
ENST00000321264.8:c.1379A>C	ENSP00000315351.4:p.His460Pro
ENST00000400769.6:c.*129A>C	ENSP00000383580.2:n.*129A>C
ENST00000403782.5:c.977A>C	ENSP00000384723.1:p.His326Pro
ENST00000436747.5:c.*2615A>C	ENSP00000400212.1:n.*2615A>C
ENST00000445308.1:c.775A>C
ENST00000468064.5:n.1269A>C
ENST00000470343.5:n.860A>C
ENST00000473126.1:n.578A>C
ENST00000486953.5:n.1203A>C
ENST00000610344.1:c.*223A>C	ENSP00000481906.1:n.*223A>C
NM_001287249.1:c.977A>C	NP_001274178.1:p.His326Pro
NM_152783.4:c.1379A>C	NP_689996.4:p.His460Pro
NR_109778.1:n.1301A>C
XM_011511734.1:c.1499A>C	XP_011510036.1:p.His500Pro
XM_011511735.1:c.1457A>C	XP_011510037.1:p.His486Pro
XM_011511736.1:c.1421A>C	XP_011510038.1:p.His474Pro
XM_011511744.1:c.*111A>C	XP_011510046.1:n.*111A>C
XM_011511750.1:c.*46A>C	XP_011510052.1:n.*46A>C
XM_011511754.1:c.938A>C	XP_011510056.1:p.His313Pro
XM_011511755.1:c.929A>C	XP_011510057.1:p.His310Pro
XM_011511756.1:c.926A>C	XP_011510058.1:p.His309Pro
XR_923004.1:n.2011A>C
XR_923007.1:n.1721A>C
XR_923011.1:n.1822A>C
NM_001352824.1:c.818A>C	NP_001339753.1:p.His273Pro
XM_011511734.2:c.1499A>C	XP_011510036.1:p.His500Pro
XM_011511735.2:c.1457A>C	XP_011510037.1:p.His486Pro
XM_011511736.2:c.1421A>C	XP_011510038.1:p.His474Pro
XM_011511744.2:c.*111A>C	XP_011510046.1:n.*111A>C
XM_011511750.3:c.*46A>C	XP_011510052.1:n.*46A>C
XM_011511756.2:c.926A>C	XP_011510058.1:p.His309Pro
XM_024453102.1:c.1271A>C	XP_024308870.1:p.His424Pro
XR_001738918.2:n.1753A>C
XR_001738919.2:n.1687A>C
XR_923004.3:n.2010A>C
XR_923007.3:n.1720A>C
XR_923011.3:n.1821A>C
NM_152783.5:c.1379A>C MANE Select	NP_689996.4:p.His460Pro
NM_001287249.2:c.977A>C	NP_001274178.1:p.His326Pro
NM_001352824.2:c.818A>C	NP_001339753.1:p.His273Pro
NR_109778.2:n.1250A>C