Canonical Allele Identifier: CA351412904

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707134A>C (hg19) ; chr2:g.241767719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767719A>C , CM000664.2:g.241767719A>C	GRCh38
NC_000002.11:g.242707134A>C , CM000664.1:g.242707134A>C	GRCh37
NC_000002.10:g.242355807A>C	NCBI36
NG_012012.1:g.38105A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1316A>C MANE Select	ENSP00000315351.4:p.Asn439Thr
ENST00000321264.8:c.1316A>C	ENSP00000315351.4:p.Asn439Thr
ENST00000400769.6:c.*66A>C	ENSP00000383580.2:n.*66A>C
ENST00000403782.5:c.914A>C	ENSP00000384723.1:p.Asn305Thr
ENST00000436747.5:c.*2552A>C	ENSP00000400212.1:n.*2552A>C
ENST00000445308.1:c.712A>C
ENST00000468064.5:n.1206A>C
ENST00000470343.5:n.797A>C
ENST00000473126.1:n.515A>C
ENST00000486953.5:n.1140A>C
ENST00000610344.1:c.*160A>C	ENSP00000481906.1:n.*160A>C
NM_001287249.1:c.914A>C	NP_001274178.1:p.Asn305Thr
NM_152783.4:c.1316A>C	NP_689996.4:p.Asn439Thr
NR_109778.1:n.1238A>C
XM_011511734.1:c.1436A>C	XP_011510036.1:p.Asn479Thr
XM_011511735.1:c.1394A>C	XP_011510037.1:p.Asn465Thr
XM_011511736.1:c.1358A>C	XP_011510038.1:p.Asn453Thr
XM_011511744.1:c.*48A>C	XP_011510046.1:n.*48A>C
XM_011511750.1:c.1228A>C	XP_011510052.1:p.Thr410Pro
XM_011511754.1:c.875A>C	XP_011510056.1:p.Asn292Thr
XM_011511755.1:c.866A>C	XP_011510057.1:p.Asn289Thr
XM_011511756.1:c.863A>C	XP_011510058.1:p.Asn288Thr
XR_923004.1:n.1948A>C
XR_923007.1:n.1658A>C
XR_923011.1:n.1759A>C
NM_001352824.1:c.755A>C	NP_001339753.1:p.Asn252Thr
XM_011511734.2:c.1436A>C	XP_011510036.1:p.Asn479Thr
XM_011511735.2:c.1394A>C	XP_011510037.1:p.Asn465Thr
XM_011511736.2:c.1358A>C	XP_011510038.1:p.Asn453Thr
XM_011511744.2:c.*48A>C	XP_011510046.1:n.*48A>C
XM_011511750.3:c.1228A>C	XP_011510052.1:p.Thr410Pro
XM_011511756.2:c.863A>C	XP_011510058.1:p.Asn288Thr
XM_024453102.1:c.1208A>C	XP_024308870.1:p.Asn403Thr
XR_001738918.2:n.1690A>C
XR_001738919.2:n.1624A>C
XR_923004.3:n.1947A>C
XR_923007.3:n.1657A>C
XR_923011.3:n.1758A>C
NM_152783.5:c.1316A>C MANE Select	NP_689996.4:p.Asn439Thr
NM_001287249.2:c.914A>C	NP_001274178.1:p.Asn305Thr
NM_001352824.2:c.755A>C	NP_001339753.1:p.Asn252Thr
NR_109778.2:n.1187A>C