Canonical Allele Identifier: CA390699812
Gene: SPTLC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 522988
ClinVar RCV Id: RCV000626186
dbSNP Id: rs1555372980

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518061G>A , CM000676.2:g.77518061G>A GRCh38
NC_000014.8:g.77984404G>A , CM000676.1:g.77984404G>A GRCh37
NC_000014.7:g.77054157G>A NCBI36
NG_028282.1:g.103707C>T , LRG_371:g.103707C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.578C>T
ENST00000687688.1:n.1309C>T
ENST00000692906.1:n.1278C>T
ENST00000216484.7:c.1546C>T MANE Select ENSP00000216484.2:p.His516Tyr
ENST00000216484.6:c.1546C>T ENSP00000216484.2:p.His516Tyr
ENST00000556607.1:c.374C>T ENSP00000451029.1:n.374C>T
NM_004863.3:c.1546C>T , LRG_371t1:c.1546C>T NP_004854.1:p.His516Tyr
NM_004863.4:c.1546C>T MANE Select NP_004854.1:p.His516Tyr