Canonical Allele Identifier: CA389648686

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50265491T>C , CM000676.2:g.50265491T>C	GRCh38
NC_000014.8:g.50732209T>C , CM000676.1:g.50732209T>C	GRCh37
NC_000014.7:g.49801959T>C	NCBI36
NG_008092.1:g.51739A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.1065-2A>G MANE Select	NP_079160.1:n.1065-2A>G
ENST00000267436.9:c.1065-2A>G MANE Select	ENSP00000267436.4:n.1065-2A>G
NM_024884.2:c.1065-2A>G	NP_079160.1:n.1065-2A>G
ENST00000261699.8:c.1065-2A>G	ENSP00000261699.4:n.1065-2A>G
ENST00000267436.8:c.1065-2A>G	ENSP00000267436.4:n.1065-2A>G
ENST00000421284.7:c.1065-2A>G	ENSP00000405559.3:n.1065-2A>G
XM_005268075.3:c.1065-2A>G	XP_005268132.1:n.1065-2A>G
XM_005268075.5:c.1065-2A>G	XP_005268132.1:n.1065-2A>G
XM_011537166.1:c.954-2A>G	XP_011535468.1:n.954-2A>G
XM_011537166.3:c.954-2A>G	XP_011535468.1:n.954-2A>G
XM_011537167.1:c.930-2A>G	XP_011535469.1:n.930-2A>G
XM_011537167.3:c.930-2A>G	XP_011535469.1:n.930-2A>G
XM_011537168.1:c.519-2A>G	XP_011535470.1:n.519-2A>G
XM_011537168.3:c.519-2A>G	XP_011535470.1:n.519-2A>G
XM_011537169.1:c.519-2A>G	XP_011535471.1:n.519-2A>G
XM_017021655.2:c.954-2A>G	XP_016877144.1:n.954-2A>G
XM_017021656.2:c.519-2A>G	XP_016877145.1:n.519-2A>G
XM_017021657.2:c.519-2A>G	XP_016877146.1:n.519-2A>G