Canonical Allele Identifier: CA2148430690

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518077A= , CM000676.2:g.77518077A=	GRCh38
NC_000014.8:g.77984420A= , CM000676.1:g.77984420A=	GRCh37
NC_000014.7:g.77054173A=	NCBI36
NG_028282.1:g.103691T= , LRG_371:g.103691T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.562T=
ENST00000687688.1:n.1293T=
ENST00000692906.1:n.1262T=
ENST00000216484.7:c.1530T= MANE Select	ENSP00000216484.2:p.Phe510=
ENST00000216484.6:c.1530T=	ENSP00000216484.2:p.Phe510=
ENST00000556607.1:c.358T=	ENSP00000451029.1:n.358T=
NM_004863.3:c.1530T= , LRG_371t1:c.1530T=	NP_004854.1:p.Phe510=
NM_004863.4:c.1530T= MANE Select	NP_004854.1:p.Phe510=