Canonical Allele Identifier: CA2222215

Gene: D2HGDH

Linked Data

• dbSNP Id: rs768149213
• ExAC: 2:242707176 T / C
• gnomAD v2: 2-242707176-T-C
• gnomAD v4: 2-241767761-T-C
• MyVariant Identifiers: chr2:g.242707176T>C (hg19) ; chr2:g.241767761T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767761T>C , CM000664.2:g.241767761T>C	GRCh38
NC_000002.11:g.242707176T>C , CM000664.1:g.242707176T>C	GRCh37
NC_000002.10:g.242355849T>C	NCBI36
NG_012012.1:g.38147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1358T>C MANE Select	ENSP00000315351.4:p.Leu453Pro
ENST00000321264.8:c.1358T>C	ENSP00000315351.4:p.Leu453Pro
ENST00000400769.6:c.*108T>C	ENSP00000383580.2:n.*108T>C
ENST00000403782.5:c.956T>C	ENSP00000384723.1:p.Leu319Pro
ENST00000436747.5:c.*2594T>C	ENSP00000400212.1:n.*2594T>C
ENST00000445308.1:c.754T>C
ENST00000468064.5:n.1248T>C
ENST00000470343.5:n.839T>C
ENST00000473126.1:n.557T>C
ENST00000486953.5:n.1182T>C
ENST00000610344.1:c.*202T>C	ENSP00000481906.1:n.*202T>C
NM_001287249.1:c.956T>C	NP_001274178.1:p.Leu319Pro
NM_152783.4:c.1358T>C	NP_689996.4:p.Leu453Pro
NR_109778.1:n.1280T>C
XM_011511734.1:c.1478T>C	XP_011510036.1:p.Leu493Pro
XM_011511735.1:c.1436T>C	XP_011510037.1:p.Leu479Pro
XM_011511736.1:c.1400T>C	XP_011510038.1:p.Leu467Pro
XM_011511744.1:c.*90T>C	XP_011510046.1:n.*90T>C
XM_011511750.1:c.*25T>C	XP_011510052.1:n.*25T>C
XM_011511754.1:c.917T>C	XP_011510056.1:p.Leu306Pro
XM_011511755.1:c.908T>C	XP_011510057.1:p.Leu303Pro
XM_011511756.1:c.905T>C	XP_011510058.1:p.Leu302Pro
XR_923004.1:n.1990T>C
XR_923007.1:n.1700T>C
XR_923011.1:n.1801T>C
NM_001352824.1:c.797T>C	NP_001339753.1:p.Leu266Pro
XM_011511734.2:c.1478T>C	XP_011510036.1:p.Leu493Pro
XM_011511735.2:c.1436T>C	XP_011510037.1:p.Leu479Pro
XM_011511736.2:c.1400T>C	XP_011510038.1:p.Leu467Pro
XM_011511744.2:c.*90T>C	XP_011510046.1:n.*90T>C
XM_011511750.3:c.*25T>C	XP_011510052.1:n.*25T>C
XM_011511756.2:c.905T>C	XP_011510058.1:p.Leu302Pro
XM_024453102.1:c.1250T>C	XP_024308870.1:p.Leu417Pro
XR_001738918.2:n.1732T>C
XR_001738919.2:n.1666T>C
XR_923004.3:n.1989T>C
XR_923007.3:n.1699T>C
XR_923011.3:n.1800T>C
NM_152783.5:c.1358T>C MANE Select	NP_689996.4:p.Leu453Pro
NM_001287249.2:c.956T>C	NP_001274178.1:p.Leu319Pro
NM_001352824.2:c.797T>C	NP_001339753.1:p.Leu266Pro
NR_109778.2:n.1229T>C