Canonical Allele Identifier: CA7177897

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50269318G>A , CM000676.2:g.50269318G>A	GRCh38
NC_000014.8:g.50736036G>A , CM000676.1:g.50736036G>A	GRCh37
NC_000014.7:g.49805786G>A	NCBI36
NG_008092.1:g.47912C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.751C>T MANE Select	NP_079160.1:p.Arg251Ter
ENST00000267436.9:c.751C>T MANE Select	ENSP00000267436.4:p.Arg251Ter
NM_024884.2:c.751C>T	NP_079160.1:p.Arg251Ter
ENST00000261699.8:c.751C>T	ENSP00000261699.4:p.Arg251Ter
ENST00000267436.8:c.751C>T	ENSP00000267436.4:p.Arg251Ter
ENST00000421284.7:c.751C>T	ENSP00000405559.3:p.Arg251Ter
XM_005268075.3:c.751C>T	XP_005268132.1:p.Arg251Ter
XM_005268075.5:c.751C>T	XP_005268132.1:p.Arg251Ter
XM_011537166.1:c.640C>T	XP_011535468.1:p.Arg214Ter
XM_011537166.3:c.640C>T	XP_011535468.1:p.Arg214Ter
XM_011537167.1:c.616C>T	XP_011535469.1:p.Arg206Ter
XM_011537167.3:c.616C>T	XP_011535469.1:p.Arg206Ter
XM_011537168.1:c.205C>T	XP_011535470.1:p.Arg69Ter
XM_011537168.3:c.205C>T	XP_011535470.1:p.Arg69Ter
XM_011537169.1:c.205C>T	XP_011535471.1:p.Arg69Ter
XM_017021655.2:c.640C>T	XP_016877144.1:p.Arg214Ter
XM_017021656.2:c.205C>T	XP_016877145.1:p.Arg69Ter
XM_017021657.2:c.205C>T	XP_016877146.1:p.Arg69Ter
XR_943538.1:n.1082C>T