Canonical Allele Identifier: CA2148430717

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518116T= , CM000676.2:g.77518116T=	GRCh38
NC_000014.8:g.77984459T= , CM000676.1:g.77984459T=	GRCh37
NC_000014.7:g.77054212T=	NCBI36
NG_028282.1:g.103652A= , LRG_371:g.103652A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.523A=
ENST00000687688.1:n.1254A=
ENST00000692906.1:n.1223A=
ENST00000216484.7:c.1491A= MANE Select	ENSP00000216484.2:p.Gly497=
ENST00000216484.6:c.1491A=	ENSP00000216484.2:p.Gly497=
ENST00000556607.1:c.319A=	ENSP00000451029.1:n.319A=
NM_004863.3:c.1491A= , LRG_371t1:c.1491A=	NP_004854.1:p.Gly497=
NM_004863.4:c.1491A= MANE Select	NP_004854.1:p.Gly497=