Canonical Allele Identifier: CA7178150
Community Standard Title: NM_024884.3(L2HGDH):c.8C>T (p.Pro3Leu)
Gene: L2HGDH HGNC NCBI
DMAC2L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50312143G>A , CM000676.2:g.50312143G>A GRCh38
NC_000014.8:g.50778861G>A , CM000676.1:g.50778861G>A GRCh37
NC_000014.7:g.49848611G>A NCBI36
NG_008092.1:g.5087C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024884.3:c.8C>T (L2HGDH) MANE Select NP_079160.1:p.Pro3Leu
ENST00000267436.9:c.8C>T (L2HGDH) MANE Select ENSP00000267436.4:p.Pro3Leu
NM_001382509.1:c.-6+289G>A (DMAC2L) NP_001369438.1:n.-6+289G>A
NM_024884.2:c.8C>T (L2HGDH) NP_079160.1:p.Pro3Leu
ENST00000261699.8:c.8C>T (L2HGDH) ENSP00000261699.4:p.Pro3Leu
ENST00000267436.8:c.8C>T (L2HGDH) ENSP00000267436.4:p.Pro3Leu
ENST00000421284.7:c.8C>T (L2HGDH) ENSP00000405559.3:p.Pro3Leu
ENST00000554191.5:c.8C>T (L2HGDH) ENSP00000451194.1:p.Pro3Leu
ENST00000555423.5:c.8C>T (L2HGDH) ENSP00000450494.1:p.Pro3Leu
ENST00000555610.1:c.8C>T (L2HGDH) ENSP00000452483.1:p.Pro3Leu
ENST00000556393.1:n.5C>T (L2HGDH)
XM_005268075.3:c.8C>T (L2HGDH) XP_005268132.1:p.Pro3Leu
XM_005268075.5:c.8C>T (L2HGDH) XP_005268132.1:p.Pro3Leu
XM_011537166.3:c.-247C>T (L2HGDH) XP_011535468.1:n.-247C>T
XM_017021220.2:c.-6+289G>A (DMAC2L) XP_016876709.1:n.-6+289G>A
XM_017021656.2:c.-618C>T (L2HGDH) XP_016877145.1:n.-618C>T
XM_017021657.2:c.-618C>T (L2HGDH) XP_016877146.1:n.-618C>T
XM_017021658.1:c.8C>T (L2HGDH) XP_016877147.1:p.Pro3Leu
XR_943538.1:n.247C>T (L2HGDH)