Canonical Allele Identifier: CA351412977

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707148G>C (hg19) ; chr2:g.241767733G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767733G>C , CM000664.2:g.241767733G>C	GRCh38
NC_000002.11:g.242707148G>C , CM000664.1:g.242707148G>C	GRCh37
NC_000002.10:g.242355821G>C	NCBI36
NG_012012.1:g.38119G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1330G>C MANE Select	ENSP00000315351.4:p.Val444Leu
ENST00000321264.8:c.1330G>C	ENSP00000315351.4:p.Val444Leu
ENST00000400769.6:c.*80G>C	ENSP00000383580.2:n.*80G>C
ENST00000403782.5:c.928G>C	ENSP00000384723.1:p.Val310Leu
ENST00000436747.5:c.*2566G>C	ENSP00000400212.1:n.*2566G>C
ENST00000445308.1:c.726G>C
ENST00000468064.5:n.1220G>C
ENST00000470343.5:n.811G>C
ENST00000473126.1:n.529G>C
ENST00000486953.5:n.1154G>C
ENST00000610344.1:c.*174G>C	ENSP00000481906.1:n.*174G>C
NM_001287249.1:c.928G>C	NP_001274178.1:p.Val310Leu
NM_152783.4:c.1330G>C	NP_689996.4:p.Val444Leu
NR_109778.1:n.1252G>C
XM_011511734.1:c.1450G>C	XP_011510036.1:p.Val484Leu
XM_011511735.1:c.1408G>C	XP_011510037.1:p.Val470Leu
XM_011511736.1:c.1372G>C	XP_011510038.1:p.Val458Leu
XM_011511744.1:c.*62G>C	XP_011510046.1:n.*62G>C
XM_011511750.1:c.1242G>C	XP_011510052.1:p.Met414Ile
XM_011511754.1:c.889G>C	XP_011510056.1:p.Val297Leu
XM_011511755.1:c.880G>C	XP_011510057.1:p.Val294Leu
XM_011511756.1:c.877G>C	XP_011510058.1:p.Val293Leu
XR_923004.1:n.1962G>C
XR_923007.1:n.1672G>C
XR_923011.1:n.1773G>C
NM_001352824.1:c.769G>C	NP_001339753.1:p.Val257Leu
XM_011511734.2:c.1450G>C	XP_011510036.1:p.Val484Leu
XM_011511735.2:c.1408G>C	XP_011510037.1:p.Val470Leu
XM_011511736.2:c.1372G>C	XP_011510038.1:p.Val458Leu
XM_011511744.2:c.*62G>C	XP_011510046.1:n.*62G>C
XM_011511750.3:c.1242G>C	XP_011510052.1:p.Met414Ile
XM_011511756.2:c.877G>C	XP_011510058.1:p.Val293Leu
XM_024453102.1:c.1222G>C	XP_024308870.1:p.Val408Leu
XR_001738918.2:n.1704G>C
XR_001738919.2:n.1638G>C
XR_923004.3:n.1961G>C
XR_923007.3:n.1671G>C
XR_923011.3:n.1772G>C
NM_152783.5:c.1330G>C MANE Select	NP_689996.4:p.Val444Leu
NM_001287249.2:c.928G>C	NP_001274178.1:p.Val310Leu
NM_001352824.2:c.769G>C	NP_001339753.1:p.Val257Leu
NR_109778.2:n.1201G>C