Canonical Allele Identifier: CA351412972

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707147T>A (hg19) ; chr2:g.241767732T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767732T>A , CM000664.2:g.241767732T>A	GRCh38
NC_000002.11:g.242707147T>A , CM000664.1:g.242707147T>A	GRCh37
NC_000002.10:g.242355820T>A	NCBI36
NG_012012.1:g.38118T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1329T>A MANE Select	ENSP00000315351.4:p.Asn443Lys
ENST00000321264.8:c.1329T>A	ENSP00000315351.4:p.Asn443Lys
ENST00000400769.6:c.*79T>A	ENSP00000383580.2:n.*79T>A
ENST00000403782.5:c.927T>A	ENSP00000384723.1:p.Asn309Lys
ENST00000436747.5:c.*2565T>A	ENSP00000400212.1:n.*2565T>A
ENST00000445308.1:c.725T>A
ENST00000468064.5:n.1219T>A
ENST00000470343.5:n.810T>A
ENST00000473126.1:n.528T>A
ENST00000486953.5:n.1153T>A
ENST00000610344.1:c.*173T>A	ENSP00000481906.1:n.*173T>A
NM_001287249.1:c.927T>A	NP_001274178.1:p.Asn309Lys
NM_152783.4:c.1329T>A	NP_689996.4:p.Asn443Lys
NR_109778.1:n.1251T>A
XM_011511734.1:c.1449T>A	XP_011510036.1:p.Asn483Lys
XM_011511735.1:c.1407T>A	XP_011510037.1:p.Asn469Lys
XM_011511736.1:c.1371T>A	XP_011510038.1:p.Asn457Lys
XM_011511744.1:c.*61T>A	XP_011510046.1:n.*61T>A
XM_011511750.1:c.1241T>A	XP_011510052.1:p.Met414Lys
XM_011511754.1:c.888T>A	XP_011510056.1:p.Asn296Lys
XM_011511755.1:c.879T>A	XP_011510057.1:p.Asn293Lys
XM_011511756.1:c.876T>A	XP_011510058.1:p.Asn292Lys
XR_923004.1:n.1961T>A
XR_923007.1:n.1671T>A
XR_923011.1:n.1772T>A
NM_001352824.1:c.768T>A	NP_001339753.1:p.Asn256Lys
XM_011511734.2:c.1449T>A	XP_011510036.1:p.Asn483Lys
XM_011511735.2:c.1407T>A	XP_011510037.1:p.Asn469Lys
XM_011511736.2:c.1371T>A	XP_011510038.1:p.Asn457Lys
XM_011511744.2:c.*61T>A	XP_011510046.1:n.*61T>A
XM_011511750.3:c.1241T>A	XP_011510052.1:p.Met414Lys
XM_011511756.2:c.876T>A	XP_011510058.1:p.Asn292Lys
XM_024453102.1:c.1221T>A	XP_024308870.1:p.Asn407Lys
XR_001738918.2:n.1703T>A
XR_001738919.2:n.1637T>A
XR_923004.3:n.1960T>A
XR_923007.3:n.1670T>A
XR_923011.3:n.1771T>A
NM_152783.5:c.1329T>A MANE Select	NP_689996.4:p.Asn443Lys
NM_001287249.2:c.927T>A	NP_001274178.1:p.Asn309Lys
NM_001352824.2:c.768T>A	NP_001339753.1:p.Asn256Lys
NR_109778.2:n.1200T>A