Canonical Allele Identifier: CA2148430695

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518096A= , CM000676.2:g.77518096A=	GRCh38
NC_000014.8:g.77984439A= , CM000676.1:g.77984439A=	GRCh37
NC_000014.7:g.77054192A=	NCBI36
NG_028282.1:g.103672T= , LRG_371:g.103672T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.543T=
ENST00000687688.1:n.1274T=
ENST00000692906.1:n.1243T=
ENST00000216484.7:c.1511T= MANE Select	ENSP00000216484.2:p.Ile504=
ENST00000216484.6:c.1511T=	ENSP00000216484.2:p.Ile504=
ENST00000556607.1:c.339T=	ENSP00000451029.1:n.339T=
NM_004863.3:c.1511T= , LRG_371t1:c.1511T=	NP_004854.1:p.Ile504=
NM_004863.4:c.1511T= MANE Select	NP_004854.1:p.Ile504=