Canonical Allele Identifier: CA115107
Gene: L2HGDH HGNC NCBI

Linked Data

ClinVar Variation Id: 1607
dbSNP Id: rs118204020

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50269164G>A , CM000676.2:g.50269164G>A GRCh38
NC_000014.8:g.50735882G>A , CM000676.1:g.50735882G>A GRCh37
NC_000014.7:g.49805632G>A NCBI36
NG_008092.1:g.48066C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267436.9:c.905C>T MANE Select ENSP00000267436.4:p.Pro302Leu
ENST00000261699.8:c.905C>T ENSP00000261699.4:p.Pro302Leu
ENST00000267436.8:c.905C>T ENSP00000267436.4:p.Pro302Leu
ENST00000421284.7:c.905C>T ENSP00000405559.3:p.Pro302Leu
NM_024884.2:c.905C>T NP_079160.1:p.Pro302Leu
XM_005268075.3:c.905C>T XP_005268132.1:p.Pro302Leu
XM_011537166.1:c.794C>T XP_011535468.1:p.Pro265Leu
XM_011537167.1:c.770C>T XP_011535469.1:p.Pro257Leu
XM_011537168.1:c.359C>T XP_011535470.1:p.Pro120Leu
XM_011537169.1:c.359C>T XP_011535471.1:p.Pro120Leu
XM_005268075.5:c.905C>T XP_005268132.1:p.Pro302Leu
XM_011537166.3:c.794C>T XP_011535468.1:p.Pro265Leu
XM_011537167.3:c.770C>T XP_011535469.1:p.Pro257Leu
XM_011537168.3:c.359C>T XP_011535470.1:p.Pro120Leu
XM_017021655.2:c.794C>T XP_016877144.1:p.Pro265Leu
XM_017021656.2:c.359C>T XP_016877145.1:p.Pro120Leu
XM_017021657.2:c.359C>T XP_016877146.1:p.Pro120Leu
NM_024884.3:c.905C>T MANE Select NP_079160.1:p.Pro302Leu