Canonical Allele Identifier: CA351413105

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707199G>C (hg19) ; chr2:g.241767784G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767784G>C , CM000664.2:g.241767784G>C	GRCh38
NC_000002.11:g.242707199G>C , CM000664.1:g.242707199G>C	GRCh37
NC_000002.10:g.242355872G>C	NCBI36
NG_012012.1:g.38170G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1381G>C MANE Select	ENSP00000315351.4:p.Val461Leu
ENST00000321264.8:c.1381G>C	ENSP00000315351.4:p.Val461Leu
ENST00000400769.6:c.*131G>C	ENSP00000383580.2:n.*131G>C
ENST00000403782.5:c.979G>C	ENSP00000384723.1:p.Val327Leu
ENST00000436747.5:c.*2617G>C	ENSP00000400212.1:n.*2617G>C
ENST00000445308.1:c.777G>C
ENST00000468064.5:n.1271G>C
ENST00000470343.5:n.862G>C
ENST00000473126.1:n.580G>C
ENST00000486953.5:n.1205G>C
ENST00000610344.1:c.*225G>C	ENSP00000481906.1:n.*225G>C
NM_001287249.1:c.979G>C	NP_001274178.1:p.Val327Leu
NM_152783.4:c.1381G>C	NP_689996.4:p.Val461Leu
NR_109778.1:n.1303G>C
XM_011511734.1:c.1501G>C	XP_011510036.1:p.Val501Leu
XM_011511735.1:c.1459G>C	XP_011510037.1:p.Val487Leu
XM_011511736.1:c.1423G>C	XP_011510038.1:p.Val475Leu
XM_011511744.1:c.*113G>C	XP_011510046.1:n.*113G>C
XM_011511750.1:c.*48G>C	XP_011510052.1:n.*48G>C
XM_011511754.1:c.940G>C	XP_011510056.1:p.Val314Leu
XM_011511755.1:c.931G>C	XP_011510057.1:p.Val311Leu
XM_011511756.1:c.928G>C	XP_011510058.1:p.Val310Leu
XR_923004.1:n.2013G>C
XR_923007.1:n.1723G>C
XR_923011.1:n.1824G>C
NM_001352824.1:c.820G>C	NP_001339753.1:p.Val274Leu
XM_011511734.2:c.1501G>C	XP_011510036.1:p.Val501Leu
XM_011511735.2:c.1459G>C	XP_011510037.1:p.Val487Leu
XM_011511736.2:c.1423G>C	XP_011510038.1:p.Val475Leu
XM_011511744.2:c.*113G>C	XP_011510046.1:n.*113G>C
XM_011511750.3:c.*48G>C	XP_011510052.1:n.*48G>C
XM_011511756.2:c.928G>C	XP_011510058.1:p.Val310Leu
XM_024453102.1:c.1273G>C	XP_024308870.1:p.Val425Leu
XR_001738918.2:n.1755G>C
XR_001738919.2:n.1689G>C
XR_923004.3:n.2012G>C
XR_923007.3:n.1722G>C
XR_923011.3:n.1823G>C
NM_152783.5:c.1381G>C MANE Select	NP_689996.4:p.Val461Leu
NM_001287249.2:c.979G>C	NP_001274178.1:p.Val327Leu
NM_001352824.2:c.820G>C	NP_001339753.1:p.Val274Leu
NR_109778.2:n.1252G>C