Canonical Allele Identifier: CA2148430679

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518030C= , CM000676.2:g.77518030C=	GRCh38
NC_000014.8:g.77984373C= , CM000676.1:g.77984373C=	GRCh37
NC_000014.7:g.77054126C=	NCBI36
NG_028282.1:g.103738G= , LRG_371:g.103738G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.601+8G=
ENST00000687688.1:n.1332+8G=
ENST00000692906.1:n.1301+8G=
ENST00000216484.7:c.1569+8G= MANE Select	ENSP00000216484.2:n.1569+8G=
ENST00000216484.6:c.1569+8G=	ENSP00000216484.2:n.1569+8G=
ENST00000556607.1:c.397+8G=	ENSP00000451029.1:n.397+8G=
NM_004863.3:c.1569+8G= , LRG_371t1:c.1569+8G=	NP_004854.1:n.1569+8G=
NM_004863.4:c.1569+8G= MANE Select	NP_004854.1:n.1569+8G=