Canonical Allele Identifier: CA2148430755

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518136T= , CM000676.2:g.77518136T=	GRCh38
NC_000014.8:g.77984479T= , CM000676.1:g.77984479T=	GRCh37
NC_000014.7:g.77054232T=	NCBI36
NG_028282.1:g.103632A= , LRG_371:g.103632A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.503A=
ENST00000687688.1:n.1234A=
ENST00000692906.1:n.1203A=
ENST00000216484.7:c.1471A= MANE Select	ENSP00000216484.2:p.Ile491=
ENST00000216484.6:c.1471A=	ENSP00000216484.2:p.Ile491=
ENST00000556607.1:c.299A=	ENSP00000451029.1:n.299A=
NM_004863.3:c.1471A= , LRG_371t1:c.1471A=	NP_004854.1:p.Ile491=
NM_004863.4:c.1471A= MANE Select	NP_004854.1:p.Ile491=