Canonical Allele Identifier: CA351413107

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707200T>C (hg19) ; chr2:g.241767785T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767785T>C , CM000664.2:g.241767785T>C	GRCh38
NC_000002.11:g.242707200T>C , CM000664.1:g.242707200T>C	GRCh37
NC_000002.10:g.242355873T>C	NCBI36
NG_012012.1:g.38171T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1382T>C MANE Select	ENSP00000315351.4:p.Val461Ala
ENST00000321264.8:c.1382T>C	ENSP00000315351.4:p.Val461Ala
ENST00000400769.6:c.*132T>C	ENSP00000383580.2:n.*132T>C
ENST00000403782.5:c.980T>C	ENSP00000384723.1:p.Val327Ala
ENST00000436747.5:c.*2618T>C	ENSP00000400212.1:n.*2618T>C
ENST00000445308.1:c.778T>C
ENST00000468064.5:n.1272T>C
ENST00000470343.5:n.863T>C
ENST00000473126.1:n.581T>C
ENST00000486953.5:n.1206T>C
ENST00000610344.1:c.*226T>C	ENSP00000481906.1:n.*226T>C
NM_001287249.1:c.980T>C	NP_001274178.1:p.Val327Ala
NM_152783.4:c.1382T>C	NP_689996.4:p.Val461Ala
NR_109778.1:n.1304T>C
XM_011511734.1:c.1502T>C	XP_011510036.1:p.Val501Ala
XM_011511735.1:c.1460T>C	XP_011510037.1:p.Val487Ala
XM_011511736.1:c.1424T>C	XP_011510038.1:p.Val475Ala
XM_011511744.1:c.*114T>C	XP_011510046.1:n.*114T>C
XM_011511750.1:c.*49T>C	XP_011510052.1:n.*49T>C
XM_011511754.1:c.941T>C	XP_011510056.1:p.Val314Ala
XM_011511755.1:c.932T>C	XP_011510057.1:p.Val311Ala
XM_011511756.1:c.929T>C	XP_011510058.1:p.Val310Ala
XR_923004.1:n.2014T>C
XR_923007.1:n.1724T>C
XR_923011.1:n.1825T>C
NM_001352824.1:c.821T>C	NP_001339753.1:p.Val274Ala
XM_011511734.2:c.1502T>C	XP_011510036.1:p.Val501Ala
XM_011511735.2:c.1460T>C	XP_011510037.1:p.Val487Ala
XM_011511736.2:c.1424T>C	XP_011510038.1:p.Val475Ala
XM_011511750.3:c.*49T>C	XP_011510052.1:n.*49T>C
XM_011511756.2:c.929T>C	XP_011510058.1:p.Val310Ala
XM_024453102.1:c.1274T>C	XP_024308870.1:p.Val425Ala
XR_001738918.2:n.1756T>C
XR_001738919.2:n.1690T>C
XR_923004.3:n.2013T>C
XR_923007.3:n.1723T>C
XR_923011.3:n.1824T>C
NM_152783.5:c.1382T>C MANE Select	NP_689996.4:p.Val461Ala
NM_001287249.2:c.980T>C	NP_001274178.1:p.Val327Ala
NM_001352824.2:c.821T>C	NP_001339753.1:p.Val274Ala
NR_109778.2:n.1253T>C