Canonical Allele Identifier: CA2221888

Gene: D2HGDH

Linked Data

• dbSNP Id: rs767990059
• ExAC: 2:242690644 T / C
• MyVariant Identifiers: chr2:g.242690644T>C (hg19) ; chr2:g.241751229T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751229T>C , CM000664.2:g.241751229T>C	GRCh38
NC_000002.11:g.242690644T>C , CM000664.1:g.242690644T>C	GRCh37
NC_000002.10:g.242339317T>C	NCBI36
NG_012012.1:g.21615T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.998-17T>C MANE Select	ENSP00000315351.4:n.998-17T>C
ENST00000321264.8:c.998-17T>C	ENSP00000315351.4:n.998-17T>C
ENST00000400769.6:c.854-4620T>C	ENSP00000383580.2:n.854-4620T>C
ENST00000403782.5:c.596-17T>C	ENSP00000384723.1:n.596-17T>C
ENST00000432449.1:c.258-17T>C
ENST00000436747.5:c.*1314-17T>C	ENSP00000400212.1:n.*1314-17T>C
ENST00000454048.1:c.101-17T>C	ENSP00000404596.1:n.101-17T>C
ENST00000467427.5:n.389+935T>C
ENST00000470343.5:n.479-17T>C
ENST00000473126.1:n.197-17T>C
ENST00000486953.5:n.163+935T>C
ENST00000496252.5:n.353-17T>C
NM_001287249.1:c.596-17T>C	NP_001274178.1:n.596-17T>C
NM_152783.4:c.998-17T>C	NP_689996.4:n.998-17T>C
NR_109778.1:n.1063-4620T>C
XM_011511734.1:c.1076-17T>C	XP_011510036.1:n.1076-17T>C
XM_011511735.1:c.1076-17T>C	XP_011510037.1:n.1076-17T>C
XM_011511736.1:c.998-17T>C	XP_011510038.1:n.998-17T>C
XM_011511737.1:c.1076-17T>C	XP_011510039.1:n.1076-17T>C
XM_011511742.1:c.1213-17T>C	XP_011510044.1:n.1213-17T>C
XM_011511743.1:c.1213-17T>C	XP_011510045.1:n.1213-17T>C
XM_011511744.1:c.1213-17T>C	XP_011510046.1:n.1213-17T>C
XM_011511745.1:c.1076-17T>C	XP_011510047.1:n.1076-17T>C
XM_011511748.1:c.1147-17T>C	XP_011510050.1:n.1147-17T>C
XM_011511749.1:c.1179+935T>C	XP_011510051.1:n.1179+935T>C
XM_011511750.1:c.1076-17T>C	XP_011510052.1:n.1076-17T>C
XM_011511751.1:c.1212+650T>C	XP_011510053.1:n.1212+650T>C
XM_011511753.1:c.1075+935T>C	XP_011510055.1:n.1075+935T>C
XM_011511754.1:c.515-17T>C	XP_011510056.1:n.515-17T>C
XM_011511755.1:c.506-17T>C	XP_011510057.1:n.506-17T>C
XM_011511756.1:c.853+6352T>C	XP_011510058.1:n.853+6352T>C
XM_011511757.1:c.*14-17T>C	XP_011510059.1:n.*14-17T>C
XR_241434.3:n.1337-17T>C
XR_923003.1:n.1859-17T>C
XR_923004.1:n.1630-17T>C
XR_923005.1:n.1373-17T>C
XR_923006.1:n.1373-17T>C
XR_923007.1:n.1340-17T>C
XR_923008.1:n.1236-17T>C
XR_923009.1:n.1236-17T>C
XR_923010.1:n.1670-17T>C
XR_923011.1:n.1441-17T>C
XR_923012.1:n.1375-17T>C
XR_923014.1:n.1014-4620T>C
NM_001352824.1:c.437-17T>C	NP_001339753.1:n.437-17T>C
XM_011511734.2:c.1076-17T>C	XP_011510036.1:n.1076-17T>C
XM_011511735.2:c.1076-17T>C	XP_011510037.1:n.1076-17T>C
XM_011511736.2:c.998-17T>C	XP_011510038.1:n.998-17T>C
XM_011511737.3:c.1076-17T>C	XP_011510039.1:n.1076-17T>C
XM_011511743.2:c.1213-17T>C	XP_011510045.1:n.1213-17T>C
XM_011511744.2:c.1213-17T>C	XP_011510046.1:n.1213-17T>C
XM_011511745.3:c.1076-17T>C	XP_011510047.1:n.1076-17T>C
XM_011511749.3:c.1179+935T>C	XP_011510051.1:n.1179+935T>C
XM_011511750.3:c.1076-17T>C	XP_011510052.1:n.1076-17T>C
XM_011511751.2:c.1212+650T>C	XP_011510053.1:n.1212+650T>C
XM_011511753.3:c.1075+935T>C	XP_011510055.1:n.1075+935T>C
XM_011511756.2:c.853+6352T>C	XP_011510058.1:n.853+6352T>C
XM_011511757.3:c.*14-17T>C	XP_011510059.1:n.*14-17T>C
XM_017004828.2:c.998-17T>C	XP_016860317.1:n.998-17T>C
XM_017004829.2:c.1213-17T>C	XP_016860318.1:n.1213-17T>C
XM_017004830.2:c.1076-17T>C	XP_016860319.1:n.1076-17T>C
XM_024453102.1:c.848-17T>C	XP_024308870.1:n.848-17T>C
XR_001738918.2:n.1372-17T>C
XR_001738919.2:n.1306-17T>C
XR_002959334.1:n.1858-17T>C
XR_002959335.1:n.1502-17T>C
XR_241434.4:n.1336-17T>C
XR_923004.3:n.1629-17T>C
XR_923005.2:n.1372-17T>C
XR_923007.3:n.1339-17T>C
XR_923009.2:n.1235-17T>C
XR_923010.2:n.1669-17T>C
XR_923011.3:n.1440-17T>C
XR_923012.2:n.1374-17T>C
XR_923014.3:n.1013-4620T>C
NM_152783.5:c.998-17T>C MANE Select	NP_689996.4:n.998-17T>C
NM_001287249.2:c.596-17T>C	NP_001274178.1:n.596-17T>C
NM_001352824.2:c.437-17T>C	NP_001339753.1:n.437-17T>C
NR_109778.2:n.1012-4620T>C