Canonical Allele Identifier: CA351413294

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707229A>C (hg19) ; chr2:g.241767814A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767814A>C , CM000664.2:g.241767814A>C	GRCh38
NC_000002.11:g.242707229A>C , CM000664.1:g.242707229A>C	GRCh37
NC_000002.10:g.242355902A>C	NCBI36
NG_012012.1:g.38200A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1411A>C MANE Select	ENSP00000315351.4:p.Ser471Arg
ENST00000321264.8:c.1411A>C	ENSP00000315351.4:p.Ser471Arg
ENST00000400769.6:c.*161A>C	ENSP00000383580.2:n.*161A>C
ENST00000403782.5:c.1009A>C	ENSP00000384723.1:p.Ser337Arg
ENST00000436747.5:c.*2647A>C	ENSP00000400212.1:n.*2647A>C
ENST00000445308.1:c.807A>C
ENST00000468064.5:n.1301A>C
ENST00000470343.5:n.892A>C
ENST00000473126.1:n.610A>C
ENST00000486953.5:n.1235A>C
ENST00000610344.1:c.*255A>C	ENSP00000481906.1:n.*255A>C
NM_001287249.1:c.1009A>C	NP_001274178.1:p.Ser337Arg
NM_152783.4:c.1411A>C	NP_689996.4:p.Ser471Arg
NR_109778.1:n.1333A>C
XM_011511734.1:c.1531A>C	XP_011510036.1:p.Ser511Arg
XM_011511735.1:c.1489A>C	XP_011510037.1:p.Ser497Arg
XM_011511736.1:c.1453A>C	XP_011510038.1:p.Ser485Arg
XM_011511750.1:c.*78A>C	XP_011510052.1:n.*78A>C
XM_011511754.1:c.970A>C	XP_011510056.1:p.Ser324Arg
XM_011511755.1:c.961A>C	XP_011510057.1:p.Ser321Arg
XM_011511756.1:c.958A>C	XP_011510058.1:p.Ser320Arg
XR_923004.1:n.2043A>C
XR_923007.1:n.1753A>C
XR_923011.1:n.1854A>C
NM_001352824.1:c.850A>C	NP_001339753.1:p.Ser284Arg
XM_011511734.2:c.1531A>C	XP_011510036.1:p.Ser511Arg
XM_011511735.2:c.1489A>C	XP_011510037.1:p.Ser497Arg
XM_011511736.2:c.1453A>C	XP_011510038.1:p.Ser485Arg
XM_011511750.3:c.*78A>C	XP_011510052.1:n.*78A>C
XM_011511756.2:c.958A>C	XP_011510058.1:p.Ser320Arg
XM_024453102.1:c.1303A>C	XP_024308870.1:p.Ser435Arg
XR_001738918.2:n.1785A>C
XR_001738919.2:n.1719A>C
XR_923004.3:n.2042A>C
XR_923007.3:n.1752A>C
XR_923011.3:n.1853A>C
NM_152783.5:c.1411A>C MANE Select	NP_689996.4:p.Ser471Arg
NM_001287249.2:c.1009A>C	NP_001274178.1:p.Ser337Arg
NM_001352824.2:c.850A>C	NP_001339753.1:p.Ser284Arg
NR_109778.2:n.1282A>C