Canonical Allele Identifier: CA117092
Gene: SPTLC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4799
ClinVar RCV Id: RCV000005066
dbSNP Id: rs267607091

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518097T>A , CM000676.2:g.77518097T>A GRCh38
NC_000014.8:g.77984440T>A , CM000676.1:g.77984440T>A GRCh37
NC_000014.7:g.77054193T>A NCBI36
NG_028282.1:g.103671A>T , LRG_371:g.103671A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000686627.1:n.542A>T
ENST00000687688.1:n.1273A>T
ENST00000692906.1:n.1242A>T
ENST00000216484.7:c.1510A>T MANE Select ENSP00000216484.2:p.Ile504Phe
ENST00000216484.6:c.1510A>T ENSP00000216484.2:p.Ile504Phe
ENST00000556607.1:c.338A>T ENSP00000451029.1:n.338A>T
NM_004863.3:c.1510A>T , LRG_371t1:c.1510A>T NP_004854.1:p.Ile504Phe
NM_004863.4:c.1510A>T MANE Select NP_004854.1:p.Ile504Phe