Canonical Allele Identifier: CA389650160

Gene: L2HGDH

Linked Data

• gnomAD v4: 14-50269174-T-G
• MyVariant Identifiers: chr14:g.50735892T>G (hg19) ; chr14:g.50269174T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50269174T>G , CM000676.2:g.50269174T>G	GRCh38
NC_000014.8:g.50735892T>G , CM000676.1:g.50735892T>G	GRCh37
NC_000014.7:g.49805642T>G	NCBI36
NG_008092.1:g.48056A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267436.9:c.895A>C MANE Select	ENSP00000267436.4:p.Asn299His
ENST00000261699.8:c.895A>C	ENSP00000261699.4:p.Asn299His
ENST00000267436.8:c.895A>C	ENSP00000267436.4:p.Asn299His
ENST00000421284.7:c.895A>C	ENSP00000405559.3:p.Asn299His
NM_024884.2:c.895A>C	NP_079160.1:p.Asn299His
XM_005268075.3:c.895A>C	XP_005268132.1:p.Asn299His
XM_011537166.1:c.784A>C	XP_011535468.1:p.Asn262His
XM_011537167.1:c.760A>C	XP_011535469.1:p.Asn254His
XM_011537168.1:c.349A>C	XP_011535470.1:p.Asn117His
XM_011537169.1:c.349A>C	XP_011535471.1:p.Asn117His
XM_005268075.5:c.895A>C	XP_005268132.1:p.Asn299His
XM_011537166.3:c.784A>C	XP_011535468.1:p.Asn262His
XM_011537167.3:c.760A>C	XP_011535469.1:p.Asn254His
XM_011537168.3:c.349A>C	XP_011535470.1:p.Asn117His
XM_017021655.2:c.784A>C	XP_016877144.1:p.Asn262His
XM_017021656.2:c.349A>C	XP_016877145.1:p.Asn117His
XM_017021657.2:c.349A>C	XP_016877146.1:p.Asn117His
NM_024884.3:c.895A>C MANE Select	NP_079160.1:p.Asn299His