Canonical Allele Identifier: CA351413311

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767816-C-G
• MyVariant Identifiers: chr2:g.242707231C>G (hg19) ; chr2:g.241767816C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767816C>G , CM000664.2:g.241767816C>G	GRCh38
NC_000002.11:g.242707231C>G , CM000664.1:g.242707231C>G	GRCh37
NC_000002.10:g.242355904C>G	NCBI36
NG_012012.1:g.38202C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1413C>G MANE Select	ENSP00000315351.4:p.Ser471Arg
ENST00000321264.8:c.1413C>G	ENSP00000315351.4:p.Ser471Arg
ENST00000400769.6:c.*163C>G	ENSP00000383580.2:n.*163C>G
ENST00000403782.5:c.1011C>G	ENSP00000384723.1:p.Ser337Arg
ENST00000436747.5:c.*2649C>G	ENSP00000400212.1:n.*2649C>G
ENST00000445308.1:c.809C>G
ENST00000468064.5:n.1303C>G
ENST00000470343.5:n.894C>G
ENST00000473126.1:n.612C>G
ENST00000486953.5:n.1237C>G
ENST00000610344.1:c.*257C>G	ENSP00000481906.1:n.*257C>G
NM_001287249.1:c.1011C>G	NP_001274178.1:p.Ser337Arg
NM_152783.4:c.1413C>G	NP_689996.4:p.Ser471Arg
NR_109778.1:n.1335C>G
XM_011511734.1:c.1533C>G	XP_011510036.1:p.Ser511Arg
XM_011511735.1:c.1491C>G	XP_011510037.1:p.Ser497Arg
XM_011511736.1:c.1455C>G	XP_011510038.1:p.Ser485Arg
XM_011511750.1:c.*80C>G	XP_011510052.1:n.*80C>G
XM_011511754.1:c.972C>G	XP_011510056.1:p.Ser324Arg
XM_011511755.1:c.963C>G	XP_011510057.1:p.Ser321Arg
XM_011511756.1:c.960C>G	XP_011510058.1:p.Ser320Arg
XR_923004.1:n.2045C>G
XR_923007.1:n.1755C>G
XR_923011.1:n.1856C>G
NM_001352824.1:c.852C>G	NP_001339753.1:p.Ser284Arg
XM_011511734.2:c.1533C>G	XP_011510036.1:p.Ser511Arg
XM_011511735.2:c.1491C>G	XP_011510037.1:p.Ser497Arg
XM_011511736.2:c.1455C>G	XP_011510038.1:p.Ser485Arg
XM_011511750.3:c.*80C>G	XP_011510052.1:n.*80C>G
XM_011511756.2:c.960C>G	XP_011510058.1:p.Ser320Arg
XM_024453102.1:c.1305C>G	XP_024308870.1:p.Ser435Arg
XR_001738918.2:n.1787C>G
XR_001738919.2:n.1721C>G
XR_923004.3:n.2044C>G
XR_923007.3:n.1754C>G
XR_923011.3:n.1855C>G
NM_152783.5:c.1413C>G MANE Select	NP_689996.4:p.Ser471Arg
NM_001287249.2:c.1011C>G	NP_001274178.1:p.Ser337Arg
NM_001352824.2:c.852C>G	NP_001339753.1:p.Ser284Arg
NR_109778.2:n.1284C>G