Canonical Allele Identifier: CA7177867

Gene: L2HGDH

Linked Data

• dbSNP Id: rs777597546
• ExAC: 14:50735885 T / A
• gnomAD v2: 14-50735885-T-A
• gnomAD v4: 14-50269167-T-A
• MyVariant Identifiers: chr14:g.50735885T>A (hg19) ; chr14:g.50269167T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50269167T>A , CM000676.2:g.50269167T>A	GRCh38
NC_000014.8:g.50735885T>A , CM000676.1:g.50735885T>A	GRCh37
NC_000014.7:g.49805635T>A	NCBI36
NG_008092.1:g.48063A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267436.9:c.902A>T MANE Select	ENSP00000267436.4:p.Tyr301Phe
ENST00000261699.8:c.902A>T	ENSP00000261699.4:p.Tyr301Phe
ENST00000267436.8:c.902A>T	ENSP00000267436.4:p.Tyr301Phe
ENST00000421284.7:c.902A>T	ENSP00000405559.3:p.Tyr301Phe
NM_024884.2:c.902A>T	NP_079160.1:p.Tyr301Phe
XM_005268075.3:c.902A>T	XP_005268132.1:p.Tyr301Phe
XM_011537166.1:c.791A>T	XP_011535468.1:p.Tyr264Phe
XM_011537167.1:c.767A>T	XP_011535469.1:p.Tyr256Phe
XM_011537168.1:c.356A>T	XP_011535470.1:p.Tyr119Phe
XM_011537169.1:c.356A>T	XP_011535471.1:p.Tyr119Phe
XM_005268075.5:c.902A>T	XP_005268132.1:p.Tyr301Phe
XM_011537166.3:c.791A>T	XP_011535468.1:p.Tyr264Phe
XM_011537167.3:c.767A>T	XP_011535469.1:p.Tyr256Phe
XM_011537168.3:c.356A>T	XP_011535470.1:p.Tyr119Phe
XM_017021655.2:c.791A>T	XP_016877144.1:p.Tyr264Phe
XM_017021656.2:c.356A>T	XP_016877145.1:p.Tyr119Phe
XM_017021657.2:c.356A>T	XP_016877146.1:p.Tyr119Phe
NM_024884.3:c.902A>T MANE Select	NP_079160.1:p.Tyr301Phe