Canonical Allele Identifier: CA351408840

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690780G>C (hg19) ; chr2:g.241751365G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751365G>C , CM000664.2:g.241751365G>C	GRCh38
NC_000002.11:g.242690780G>C , CM000664.1:g.242690780G>C	GRCh37
NC_000002.10:g.242339453G>C	NCBI36
NG_012012.1:g.21751G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1117G>C MANE Select	ENSP00000315351.4:p.Ala373Pro
ENST00000321264.8:c.1117G>C	ENSP00000315351.4:p.Ala373Pro
ENST00000400769.6:c.854-4484G>C	ENSP00000383580.2:n.854-4484G>C
ENST00000403782.5:c.715G>C	ENSP00000384723.1:p.Ala239Pro
ENST00000432449.1:c.377G>C
ENST00000436747.5:c.*1433G>C	ENSP00000400212.1:n.*1433G>C
ENST00000454048.1:c.220G>C	ENSP00000404596.1:p.Ala74Pro
ENST00000467427.5:n.389+1071G>C
ENST00000470343.5:n.598G>C
ENST00000473126.1:n.316G>C
ENST00000486953.5:n.163+1071G>C
ENST00000496252.5:n.472G>C
NM_001287249.1:c.715G>C	NP_001274178.1:p.Ala239Pro
NM_152783.4:c.1117G>C	NP_689996.4:p.Ala373Pro
NR_109778.1:n.1063-4484G>C
XM_011511734.1:c.1195G>C	XP_011510036.1:p.Ala399Pro
XM_011511735.1:c.1195G>C	XP_011510037.1:p.Ala399Pro
XM_011511736.1:c.1117G>C	XP_011510038.1:p.Ala373Pro
XM_011511737.1:c.1195G>C	XP_011510039.1:p.Ala399Pro
XM_011511742.1:c.*15G>C	XP_011510044.1:n.*15G>C
XM_011511743.1:c.*15G>C	XP_011510045.1:n.*15G>C
XM_011511744.1:c.*15G>C	XP_011510046.1:n.*15G>C
XM_011511745.1:c.1195G>C	XP_011510047.1:p.Ala399Pro
XM_011511748.1:c.*15G>C	XP_011510050.1:n.*15G>C
XM_011511749.1:c.1179+1071G>C	XP_011510051.1:n.1179+1071G>C
XM_011511750.1:c.1195G>C	XP_011510052.1:p.Ala399Pro
XM_011511751.1:c.1212+786G>C	XP_011510053.1:n.1212+786G>C
XM_011511753.1:c.1075+1071G>C	XP_011510055.1:n.1075+1071G>C
XM_011511754.1:c.634G>C	XP_011510056.1:p.Ala212Pro
XM_011511755.1:c.625G>C	XP_011510057.1:p.Ala209Pro
XM_011511756.1:c.853+6488G>C	XP_011510058.1:n.853+6488G>C
XR_241434.3:n.1456G>C
XR_923003.1:n.1978G>C
XR_923004.1:n.1749G>C
XR_923005.1:n.1492G>C
XR_923006.1:n.1492G>C
XR_923007.1:n.1459G>C
XR_923008.1:n.1355G>C
XR_923009.1:n.1355G>C
XR_923010.1:n.1789G>C
XR_923011.1:n.1560G>C
XR_923012.1:n.1494G>C
XR_923014.1:n.1014-4484G>C
NM_001352824.1:c.556G>C	NP_001339753.1:p.Ala186Pro
XM_011511734.2:c.1195G>C	XP_011510036.1:p.Ala399Pro
XM_011511735.2:c.1195G>C	XP_011510037.1:p.Ala399Pro
XM_011511736.2:c.1117G>C	XP_011510038.1:p.Ala373Pro
XM_011511737.3:c.1195G>C	XP_011510039.1:p.Ala399Pro
XM_011511743.2:c.*15G>C	XP_011510045.1:n.*15G>C
XM_011511744.2:c.*15G>C	XP_011510046.1:n.*15G>C
XM_011511745.3:c.1195G>C	XP_011510047.1:p.Ala399Pro
XM_011511749.3:c.1179+1071G>C	XP_011510051.1:n.1179+1071G>C
XM_011511750.3:c.1195G>C	XP_011510052.1:p.Ala399Pro
XM_011511751.2:c.1212+786G>C	XP_011510053.1:n.1212+786G>C
XM_011511753.3:c.1075+1071G>C	XP_011510055.1:n.1075+1071G>C
XM_011511756.2:c.853+6488G>C	XP_011510058.1:n.853+6488G>C
XM_017004828.2:c.1117G>C	XP_016860317.1:p.Ala373Pro
XM_017004829.2:c.*15G>C	XP_016860318.1:n.*15G>C
XM_017004830.2:c.1195G>C	XP_016860319.1:p.Ala399Pro
XM_024453102.1:c.967G>C	XP_024308870.1:p.Ala323Pro
XR_001738918.2:n.1491G>C
XR_001738919.2:n.1425G>C
XR_002959334.1:n.1977G>C
XR_002959335.1:n.1621G>C
XR_241434.4:n.1455G>C
XR_923004.3:n.1748G>C
XR_923005.2:n.1491G>C
XR_923007.3:n.1458G>C
XR_923009.2:n.1354G>C
XR_923010.2:n.1788G>C
XR_923011.3:n.1559G>C
XR_923012.2:n.1493G>C
XR_923014.3:n.1013-4484G>C
NM_152783.5:c.1117G>C MANE Select	NP_689996.4:p.Ala373Pro
NM_001287249.2:c.715G>C	NP_001274178.1:p.Ala239Pro
NM_001352824.2:c.556G>C	NP_001339753.1:p.Ala186Pro
NR_109778.2:n.1012-4484G>C