Canonical Allele Identifier: CA172454

Gene: L2HGDH DMAC2L

Linked Data

• ClinVar Variation Id: 158799
• ClinVar RCV Id: RCV000146250 ; RCV000676578 ; RCV001516293
• dbSNP Id: rs2275591
• ExAC: 14:50778816 A / C
• gnomAD v2: 14-50778816-A-C
• gnomAD v3: 14-50312098-A-C
• gnomAD v4: 14-50312098-A-C
• MyVariant Identifiers: chr14:g.50778816A>C (hg19) ; chr14:g.50312098A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50312098A>C , CM000676.2:g.50312098A>C	GRCh38
NC_000014.8:g.50778816A>C , CM000676.1:g.50778816A>C	GRCh37
NC_000014.7:g.49848566A>C	NCBI36
NG_008092.1:g.5132T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267436.9:c.53T>G (L2HGDH) MANE Select	ENSP00000267436.4:p.Leu18Arg
ENST00000261699.8:c.53T>G (L2HGDH)	ENSP00000261699.4:p.Leu18Arg
ENST00000267436.8:c.53T>G (L2HGDH)	ENSP00000267436.4:p.Leu18Arg
ENST00000421284.7:c.53T>G (L2HGDH)	ENSP00000405559.3:p.Leu18Arg
ENST00000554191.5:c.53T>G (L2HGDH)	ENSP00000451194.1:p.Leu18Arg
ENST00000555423.5:c.53T>G (L2HGDH)	ENSP00000450494.1:p.Leu18Arg
ENST00000555610.1:c.53T>G (L2HGDH)	ENSP00000452483.1:p.Leu18Arg
ENST00000556393.1:n.50T>G (L2HGDH)
NM_024884.2:c.53T>G (L2HGDH)	NP_079160.1:p.Leu18Arg
XM_005268075.3:c.53T>G (L2HGDH)	XP_005268132.1:p.Leu18Arg
XR_943538.1:n.292T>G (L2HGDH)
XM_005268075.5:c.53T>G (L2HGDH)	XP_005268132.1:p.Leu18Arg
XM_011537166.3:c.-202T>G (L2HGDH)	XP_011535468.1:n.-202T>G
XM_017021220.2:c.-6+244A>C (DMAC2L)	XP_016876709.1:n.-6+244A>C
XM_017021656.2:c.-573T>G (L2HGDH)	XP_016877145.1:n.-573T>G
XM_017021657.2:c.-573T>G (L2HGDH)	XP_016877146.1:n.-573T>G
XM_017021658.1:c.53T>G (L2HGDH)	XP_016877147.1:p.Leu18Arg
NM_024884.3:c.53T>G (L2HGDH) MANE Select	NP_079160.1:p.Leu18Arg
NM_001382509.1:c.-6+244A>C (DMAC2L)	NP_001369438.1:n.-6+244A>C