Canonical Allele Identifier: CA389648968

Gene: L2HGDH DMAC2L

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50312150T>C , CM000676.2:g.50312150T>C	GRCh38
NC_000014.8:g.50778868T>C , CM000676.1:g.50778868T>C	GRCh37
NC_000014.7:g.49848618T>C	NCBI36
NG_008092.1:g.5080A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.1A>G (L2HGDH) MANE Select	NP_079160.1:p.Met1Val
ENST00000267436.9:c.1A>G (L2HGDH) MANE Select	ENSP00000267436.4:p.Met1Val
NM_001382509.1:c.-6+296T>C (DMAC2L)	NP_001369438.1:n.-6+296T>C
NM_024884.2:c.1A>G (L2HGDH)	NP_079160.1:p.Met1Val
ENST00000261699.8:c.1A>G (L2HGDH)	ENSP00000261699.4:p.Met1Val
ENST00000267436.8:c.1A>G (L2HGDH)	ENSP00000267436.4:p.Met1Val
ENST00000421284.7:c.1A>G (L2HGDH)	ENSP00000405559.3:p.Met1Val
ENST00000554191.5:c.1A>G (L2HGDH)	ENSP00000451194.1:p.Met1Val
ENST00000555423.5:c.1A>G (L2HGDH)	ENSP00000450494.1:p.Met1Val
ENST00000555610.1:c.1A>G (L2HGDH)	ENSP00000452483.1:p.Met1Val
XM_005268075.3:c.1A>G (L2HGDH)	XP_005268132.1:p.Met1Val
XM_005268075.5:c.1A>G (L2HGDH)	XP_005268132.1:p.Met1Val
XM_011537166.3:c.-254A>G (L2HGDH)	XP_011535468.1:n.-254A>G
XM_017021220.2:c.-6+296T>C (DMAC2L)	XP_016876709.1:n.-6+296T>C
XM_017021656.2:c.-625A>G (L2HGDH)	XP_016877145.1:n.-625A>G
XM_017021657.2:c.-625A>G (L2HGDH)	XP_016877146.1:n.-625A>G
XM_017021658.1:c.1A>G (L2HGDH)	XP_016877147.1:p.Met1Val
XR_943538.1:n.240A>G (L2HGDH)