Canonical Allele Identifier: CA963034697

Gene: L2HGDH

Linked Data

• dbSNP Id: rs1889510386
• gnomAD v3: 14-50268978-A-G
• gnomAD v4: 14-50268978-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50268978A>G , CM000676.2:g.50268978A>G	GRCh38
NC_000014.8:g.50735696A>G , CM000676.1:g.50735696A>G	GRCh37
NC_000014.7:g.49805446A>G	NCBI36
NG_008092.1:g.48252T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267436.9:c.906+185T>C MANE Select	ENSP00000267436.4:n.906+185T>C
ENST00000261699.8:c.906+185T>C	ENSP00000261699.4:n.906+185T>C
ENST00000267436.8:c.906+185T>C	ENSP00000267436.4:n.906+185T>C
ENST00000421284.7:c.906+185T>C	ENSP00000405559.3:n.906+185T>C
NM_024884.2:c.906+185T>C	NP_079160.1:n.906+185T>C
XM_005268075.3:c.906+185T>C	XP_005268132.1:n.906+185T>C
XM_011537166.1:c.795+185T>C	XP_011535468.1:n.795+185T>C
XM_011537167.1:c.771+185T>C	XP_011535469.1:n.771+185T>C
XM_011537168.1:c.360+185T>C	XP_011535470.1:n.360+185T>C
XM_011537169.1:c.360+185T>C	XP_011535471.1:n.360+185T>C
XM_005268075.5:c.906+185T>C	XP_005268132.1:n.906+185T>C
XM_011537166.3:c.795+185T>C	XP_011535468.1:n.795+185T>C
XM_011537167.3:c.771+185T>C	XP_011535469.1:n.771+185T>C
XM_011537168.3:c.360+185T>C	XP_011535470.1:n.360+185T>C
XM_017021655.2:c.795+185T>C	XP_016877144.1:n.795+185T>C
XM_017021656.2:c.360+185T>C	XP_016877145.1:n.360+185T>C
XM_017021657.2:c.360+185T>C	XP_016877146.1:n.360+185T>C
NM_024884.3:c.906+185T>C MANE Select	NP_079160.1:n.906+185T>C