Canonical Allele Identifier: CA351413077

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767770-C-G
• MyVariant Identifiers: chr2:g.242707185C>G (hg19) ; chr2:g.241767770C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1367C>G MANE Select	ENSP00000315351.4:p.Ala456Gly
ENST00000321264.8:c.1367C>G	ENSP00000315351.4:p.Ala456Gly
ENST00000400769.6:c.*117C>G	ENSP00000383580.2:n.*117C>G
ENST00000403782.5:c.965C>G	ENSP00000384723.1:p.Ala322Gly
ENST00000436747.5:c.*2603C>G	ENSP00000400212.1:n.*2603C>G
ENST00000445308.1:c.763C>G
ENST00000468064.5:n.1257C>G
ENST00000470343.5:n.848C>G
ENST00000473126.1:n.566C>G
ENST00000486953.5:n.1191C>G
ENST00000610344.1:c.*211C>G	ENSP00000481906.1:n.*211C>G
NM_001287249.1:c.965C>G	NP_001274178.1:p.Ala322Gly
NM_152783.4:c.1367C>G	NP_689996.4:p.Ala456Gly
NR_109778.1:n.1289C>G
XM_011511734.1:c.1487C>G	XP_011510036.1:p.Ala496Gly
XM_011511735.1:c.1445C>G	XP_011510037.1:p.Ala482Gly
XM_011511736.1:c.1409C>G	XP_011510038.1:p.Ala470Gly
XM_011511744.1:c.*99C>G	XP_011510046.1:n.*99C>G
XM_011511750.1:c.*34C>G	XP_011510052.1:n.*34C>G
XM_011511754.1:c.926C>G	XP_011510056.1:p.Ala309Gly
XM_011511755.1:c.917C>G	XP_011510057.1:p.Ala306Gly
XM_011511756.1:c.914C>G	XP_011510058.1:p.Ala305Gly
XR_923004.1:n.1999C>G
XR_923007.1:n.1709C>G
XR_923011.1:n.1810C>G
NM_001352824.1:c.806C>G	NP_001339753.1:p.Ala269Gly
XM_011511734.2:c.1487C>G	XP_011510036.1:p.Ala496Gly
XM_011511735.2:c.1445C>G	XP_011510037.1:p.Ala482Gly
XM_011511736.2:c.1409C>G	XP_011510038.1:p.Ala470Gly
XM_011511744.2:c.*99C>G	XP_011510046.1:n.*99C>G
XM_011511750.3:c.*34C>G	XP_011510052.1:n.*34C>G
XM_011511756.2:c.914C>G	XP_011510058.1:p.Ala305Gly
XM_024453102.1:c.1259C>G	XP_024308870.1:p.Ala420Gly
XR_001738918.2:n.1741C>G
XR_001738919.2:n.1675C>G
XR_923004.3:n.1998C>G
XR_923007.3:n.1708C>G
XR_923011.3:n.1809C>G
NM_152783.5:c.1367C>G MANE Select	NP_689996.4:p.Ala456Gly
NM_001287249.2:c.965C>G	NP_001274178.1:p.Ala322Gly
NM_001352824.2:c.806C>G	NP_001339753.1:p.Ala269Gly
NR_109778.2:n.1238C>G