Canonical Allele Identifier: CA2575590019

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518026G>A , CM000676.2:g.77518026G>A	GRCh38
NC_000014.8:g.77984369G>A , CM000676.1:g.77984369G>A	GRCh37
NC_000014.7:g.77054122G>A	NCBI36
NG_028282.1:g.103742C>T , LRG_371:g.103742C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686627.1:n.601+12C>T
ENST00000687688.1:n.1332+12C>T
ENST00000692906.1:n.1301+12C>T
ENST00000216484.7:c.1569+12C>T MANE Select	ENSP00000216484.2:n.1569+12C>T
ENST00000216484.6:c.1569+12C>T	ENSP00000216484.2:n.1569+12C>T
ENST00000556607.1:c.397+12C>T	ENSP00000451029.1:n.397+12C>T
NM_004863.3:c.1569+12C>T , LRG_371t1:c.1569+12C>T	NP_004854.1:n.1569+12C>T
NM_004863.4:c.1569+12C>T MANE Select	NP_004854.1:n.1569+12C>T