Canonical Allele Identifier: CA351413075

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1453366883
• gnomAD v3: 2-241767770-C-A
• gnomAD v4: 2-241767770-C-A
• MyVariant Identifiers: chr2:g.242707185C>A (hg19) ; chr2:g.241767770C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767770C>A , CM000664.2:g.241767770C>A	GRCh38
NC_000002.11:g.242707185C>A , CM000664.1:g.242707185C>A	GRCh37
NC_000002.10:g.242355858C>A	NCBI36
NG_012012.1:g.38156C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1367C>A MANE Select	ENSP00000315351.4:p.Ala456Asp
ENST00000321264.8:c.1367C>A	ENSP00000315351.4:p.Ala456Asp
ENST00000400769.6:c.*117C>A	ENSP00000383580.2:n.*117C>A
ENST00000403782.5:c.965C>A	ENSP00000384723.1:p.Ala322Asp
ENST00000436747.5:c.*2603C>A	ENSP00000400212.1:n.*2603C>A
ENST00000445308.1:c.763C>A
ENST00000468064.5:n.1257C>A
ENST00000470343.5:n.848C>A
ENST00000473126.1:n.566C>A
ENST00000486953.5:n.1191C>A
ENST00000610344.1:c.*211C>A	ENSP00000481906.1:n.*211C>A
NM_001287249.1:c.965C>A	NP_001274178.1:p.Ala322Asp
NM_152783.4:c.1367C>A	NP_689996.4:p.Ala456Asp
NR_109778.1:n.1289C>A
XM_011511734.1:c.1487C>A	XP_011510036.1:p.Ala496Asp
XM_011511735.1:c.1445C>A	XP_011510037.1:p.Ala482Asp
XM_011511736.1:c.1409C>A	XP_011510038.1:p.Ala470Asp
XM_011511744.1:c.*99C>A	XP_011510046.1:n.*99C>A
XM_011511750.1:c.*34C>A	XP_011510052.1:n.*34C>A
XM_011511754.1:c.926C>A	XP_011510056.1:p.Ala309Asp
XM_011511755.1:c.917C>A	XP_011510057.1:p.Ala306Asp
XM_011511756.1:c.914C>A	XP_011510058.1:p.Ala305Asp
XR_923004.1:n.1999C>A
XR_923007.1:n.1709C>A
XR_923011.1:n.1810C>A
NM_001352824.1:c.806C>A	NP_001339753.1:p.Ala269Asp
XM_011511734.2:c.1487C>A	XP_011510036.1:p.Ala496Asp
XM_011511735.2:c.1445C>A	XP_011510037.1:p.Ala482Asp
XM_011511736.2:c.1409C>A	XP_011510038.1:p.Ala470Asp
XM_011511744.2:c.*99C>A	XP_011510046.1:n.*99C>A
XM_011511750.3:c.*34C>A	XP_011510052.1:n.*34C>A
XM_011511756.2:c.914C>A	XP_011510058.1:p.Ala305Asp
XM_024453102.1:c.1259C>A	XP_024308870.1:p.Ala420Asp
XR_001738918.2:n.1741C>A
XR_001738919.2:n.1675C>A
XR_923004.3:n.1998C>A
XR_923007.3:n.1708C>A
XR_923011.3:n.1809C>A
NM_152783.5:c.1367C>A MANE Select	NP_689996.4:p.Ala456Asp
NM_001287249.2:c.965C>A	NP_001274178.1:p.Ala322Asp
NM_001352824.2:c.806C>A	NP_001339753.1:p.Ala269Asp
NR_109778.2:n.1238C>A