Canonical Allele Identifier: CA68571225

Gene: D2HGDH

Linked Data

• dbSNP Id: rs184907751
• gnomAD v2: 2-242706870-G-C
• gnomAD v3: 2-241767455-G-C
• gnomAD v4: 2-241767455-G-C
• MyVariant Identifiers: chr2:g.242706870G>C (hg19) ; chr2:g.242706870_242706920delinsCTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC (hg19) ; chr2:g.241767455G>C (hg38) ; chr2:g.241767455_241767505delinsCTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767455G>C , CM000664.2:g.241767455G>C	GRCh38
NC_000002.11:g.242706870G>C , CM000664.1:g.242706870G>C	GRCh37
NC_000002.10:g.242355543G>C	NCBI36
NG_012012.1:g.37841G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-255G>C MANE Select	ENSP00000315351.4:n.1307-255G>C
ENST00000321264.8:c.1307-255G>C	ENSP00000315351.4:n.1307-255G>C
ENST00000400769.6:c.*57-255G>C	ENSP00000383580.2:n.*57-255G>C
ENST00000403782.5:c.905-255G>C	ENSP00000384723.1:n.905-255G>C
ENST00000436747.5:c.*2543-255G>C	ENSP00000400212.1:n.*2543-255G>C
ENST00000445308.1:c.703-255G>C
ENST00000468064.5:n.1197-255G>C
ENST00000470343.5:n.788-255G>C
ENST00000473126.1:n.506-255G>C
ENST00000486953.5:n.1134-258G>C
ENST00000610344.1:c.*151-255G>C	ENSP00000481906.1:n.*151-255G>C
NM_001287249.1:c.905-255G>C	NP_001274178.1:n.905-255G>C
NM_152783.4:c.1307-255G>C	NP_689996.4:n.1307-255G>C
NR_109778.1:n.1229-255G>C
XM_011511734.1:c.1427-255G>C	XP_011510036.1:n.1427-255G>C
XM_011511735.1:c.1385-255G>C	XP_011510037.1:n.1385-255G>C
XM_011511736.1:c.1349-255G>C	XP_011510038.1:n.1349-255G>C
XM_011511744.1:c.*39-255G>C	XP_011510046.1:n.*39-255G>C
XM_011511750.1:c.1219-255G>C	XP_011510052.1:n.1219-255G>C
XM_011511754.1:c.866-255G>C	XP_011510056.1:n.866-255G>C
XM_011511755.1:c.857-255G>C	XP_011510057.1:n.857-255G>C
XM_011511756.1:c.854-255G>C	XP_011510058.1:n.854-255G>C
XR_923004.1:n.1939-255G>C
XR_923007.1:n.1649-255G>C
XR_923011.1:n.1750-255G>C
NM_001352824.1:c.746-255G>C	NP_001339753.1:n.746-255G>C
XM_011511734.2:c.1427-255G>C	XP_011510036.1:n.1427-255G>C
XM_011511735.2:c.1385-255G>C	XP_011510037.1:n.1385-255G>C
XM_011511736.2:c.1349-255G>C	XP_011510038.1:n.1349-255G>C
XM_011511744.2:c.*39-255G>C	XP_011510046.1:n.*39-255G>C
XM_011511750.3:c.1219-255G>C	XP_011510052.1:n.1219-255G>C
XM_011511756.2:c.854-255G>C	XP_011510058.1:n.854-255G>C
XM_024453102.1:c.1199-255G>C	XP_024308870.1:n.1199-255G>C
XR_001738918.2:n.1681-255G>C
XR_001738919.2:n.1615-255G>C
XR_923004.3:n.1938-255G>C
XR_923007.3:n.1648-255G>C
XR_923011.3:n.1749-255G>C
NM_152783.5:c.1307-255G>C MANE Select	NP_689996.4:n.1307-255G>C
NM_001287249.2:c.905-255G>C	NP_001274178.1:n.905-255G>C
NM_001352824.2:c.746-255G>C	NP_001339753.1:n.746-255G>C
NR_109778.2:n.1178-255G>C