Canonical Allele Identifier: CA260760325

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50302950G>A , CM000676.2:g.50302950G>A	GRCh38
NC_000014.8:g.50769668G>A , CM000676.1:g.50769668G>A	GRCh37
NC_000014.7:g.49839418G>A	NCBI36
NG_008092.1:g.14280C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.208C>T MANE Select	NP_079160.1:p.Arg70Ter
ENST00000267436.9:c.208C>T MANE Select	ENSP00000267436.4:p.Arg70Ter
NM_024884.2:c.208C>T	NP_079160.1:p.Arg70Ter
ENST00000261699.8:c.208C>T	ENSP00000261699.4:p.Arg70Ter
ENST00000267436.8:c.208C>T	ENSP00000267436.4:p.Arg70Ter
ENST00000421284.7:c.208C>T	ENSP00000405559.3:p.Arg70Ter
ENST00000554191.5:c.*71C>T	ENSP00000451194.1:n.*71C>T
ENST00000555423.5:c.208C>T	ENSP00000450494.1:p.Arg70Ter
ENST00000555610.1:c.208C>T	ENSP00000452483.1:p.Arg70Ter
ENST00000556393.1:n.348C>T
XM_005268075.3:c.208C>T	XP_005268132.1:p.Arg70Ter
XM_005268075.5:c.208C>T	XP_005268132.1:p.Arg70Ter
XM_011537166.1:c.97C>T	XP_011535468.1:p.Arg33Ter
XM_011537166.3:c.97C>T	XP_011535468.1:p.Arg33Ter
XM_011537167.1:c.73C>T	XP_011535469.1:p.Arg25Ter
XM_011537167.3:c.73C>T	XP_011535469.1:p.Arg25Ter
XM_017021655.2:c.97C>T	XP_016877144.1:p.Arg33Ter
XM_017021656.2:c.-418C>T	XP_016877145.1:n.-418C>T
XM_017021657.2:c.-418C>T	XP_016877146.1:n.-418C>T
XM_017021658.1:c.208C>T	XP_016877147.1:p.Arg70Ter
XR_943538.1:n.447C>T