Canonical Allele Identifier: CA390699889

Gene: SPTLC2

Linked Data

• dbSNP Id: rs2079367567
• MyVariant Identifiers: chr14:g.77984428C>T (hg19) ; chr14:g.77518085C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518085C>T , CM000676.2:g.77518085C>T	GRCh38
NC_000014.8:g.77984428C>T , CM000676.1:g.77984428C>T	GRCh37
NC_000014.7:g.77054181C>T	NCBI36
NG_028282.1:g.103683G>A , LRG_371:g.103683G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.554G>A
ENST00000687688.1:n.1285G>A
ENST00000692906.1:n.1254G>A
ENST00000216484.7:c.1522G>A MANE Select	ENSP00000216484.2:p.Ala508Thr
ENST00000216484.6:c.1522G>A	ENSP00000216484.2:p.Ala508Thr
ENST00000556607.1:c.350G>A	ENSP00000451029.1:n.350G>A
NM_004863.3:c.1522G>A , LRG_371t1:c.1522G>A	NP_004854.1:p.Ala508Thr
NM_004863.4:c.1522G>A MANE Select	NP_004854.1:p.Ala508Thr