Canonical Allele Identifier: CA2148430711

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518106T= , CM000676.2:g.77518106T=	GRCh38
NC_000014.8:g.77984449T= , CM000676.1:g.77984449T=	GRCh37
NC_000014.7:g.77054202T=	NCBI36
NG_028282.1:g.103662A= , LRG_371:g.103662A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.533A=
ENST00000687688.1:n.1264A=
ENST00000692906.1:n.1233A=
ENST00000216484.7:c.1501A= MANE Select	ENSP00000216484.2:p.Thr501=
ENST00000216484.6:c.1501A=	ENSP00000216484.2:p.Thr501=
ENST00000556607.1:c.329A=	ENSP00000451029.1:n.329A=
NM_004863.3:c.1501A= , LRG_371t1:c.1501A=	NP_004854.1:p.Thr501=
NM_004863.4:c.1501A= MANE Select	NP_004854.1:p.Thr501=