Canonical Allele Identifier: CA7178127

Gene: L2HGDH DMAC2L

Linked Data

• ClinVar Variation Id: 435697
• ClinVar RCV Id: RCV000501806 ; RCV000962502 ; RCV003960169
• dbSNP Id: rs201806251
• ExAC: 14:50778732 G / A
• gnomAD v2: 14-50778732-G-A
• gnomAD v3: 14-50312014-G-A
• gnomAD v4: 14-50312014-G-A
• MyVariant Identifiers: chr14:g.50778732G>A (hg19) ; chr14:g.50312014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50312014G>A , CM000676.2:g.50312014G>A	GRCh38
NC_000014.8:g.50778732G>A , CM000676.1:g.50778732G>A	GRCh37
NC_000014.7:g.49848482G>A	NCBI36
NG_008092.1:g.5216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267436.9:c.137C>T (L2HGDH) MANE Select	ENSP00000267436.4:p.Thr46Ile
ENST00000261699.8:c.137C>T (L2HGDH)	ENSP00000261699.4:p.Thr46Ile
ENST00000267436.8:c.137C>T (L2HGDH)	ENSP00000267436.4:p.Thr46Ile
ENST00000421284.7:c.137C>T (L2HGDH)	ENSP00000405559.3:p.Thr46Ile
ENST00000554191.5:c.137C>T (L2HGDH)	ENSP00000451194.1:p.Thr46Ile
ENST00000555423.5:c.137C>T (L2HGDH)	ENSP00000450494.1:p.Thr46Ile
ENST00000555610.1:c.137C>T (L2HGDH)	ENSP00000452483.1:p.Thr46Ile
ENST00000556393.1:n.134C>T (L2HGDH)
NM_024884.2:c.137C>T (L2HGDH)	NP_079160.1:p.Thr46Ile
XM_005268075.3:c.137C>T (L2HGDH)	XP_005268132.1:p.Thr46Ile
XM_011537166.1:c.-118C>T (L2HGDH)	XP_011535468.1:n.-118C>T
XR_943538.1:n.376C>T (L2HGDH)
XM_005268075.5:c.137C>T (L2HGDH)	XP_005268132.1:p.Thr46Ile
XM_011537166.3:c.-118C>T (L2HGDH)	XP_011535468.1:n.-118C>T
XM_017021220.2:c.-6+160G>A (DMAC2L)	XP_016876709.1:n.-6+160G>A
XM_017021656.2:c.-489C>T (L2HGDH)	XP_016877145.1:n.-489C>T
XM_017021657.2:c.-489C>T (L2HGDH)	XP_016877146.1:n.-489C>T
XM_017021658.1:c.137C>T (L2HGDH)	XP_016877147.1:p.Thr46Ile
NM_024884.3:c.137C>T (L2HGDH) MANE Select	NP_079160.1:p.Thr46Ile
NM_001382509.1:c.-6+160G>A (DMAC2L)	NP_001369438.1:n.-6+160G>A