Canonical Allele Identifier: CA390699809
Gene: SPTLC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518060T>A , CM000676.2:g.77518060T>A GRCh38
NC_000014.8:g.77984403T>A , CM000676.1:g.77984403T>A GRCh37
NC_000014.7:g.77054156T>A NCBI36
NG_028282.1:g.103708A>T , LRG_371:g.103708A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.579A>T
ENST00000687688.1:n.1310A>T
ENST00000692906.1:n.1279A>T
ENST00000216484.7:c.1547A>T MANE Select ENSP00000216484.2:p.His516Leu
ENST00000216484.6:c.1547A>T ENSP00000216484.2:p.His516Leu
ENST00000556607.1:c.375A>T ENSP00000451029.1:n.375A>T
NM_004863.3:c.1547A>T , LRG_371t1:c.1547A>T NP_004854.1:p.His516Leu
NM_004863.4:c.1547A>T MANE Select NP_004854.1:p.His516Leu