Canonical Allele Identifier: CA2148430743

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518128G= , CM000676.2:g.77518128G=	GRCh38
NC_000014.8:g.77984471G= , CM000676.1:g.77984471G=	GRCh37
NC_000014.7:g.77054224G=	NCBI36
NG_028282.1:g.103640C= , LRG_371:g.103640C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.511C=
ENST00000687688.1:n.1242C=
ENST00000692906.1:n.1211C=
ENST00000216484.7:c.1479C= MANE Select	ENSP00000216484.2:p.Val493=
ENST00000216484.6:c.1479C=	ENSP00000216484.2:p.Val493=
ENST00000556607.1:c.307C=	ENSP00000451029.1:n.307C=
NM_004863.3:c.1479C= , LRG_371t1:c.1479C=	NP_004854.1:p.Val493=
NM_004863.4:c.1479C= MANE Select	NP_004854.1:p.Val493=