Canonical Allele Identifier: CA390700144

Gene: SPTLC2

Linked Data

• ClinVar Variation Id: 2758383
• ClinVar RCV Id: RCV003526322
• MyVariant Identifiers: chr14:g.77984502C>A (hg19) ; chr14:g.77518159C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518159C>A , CM000676.2:g.77518159C>A	GRCh38
NC_000014.8:g.77984502C>A , CM000676.1:g.77984502C>A	GRCh37
NC_000014.7:g.77054255C>A	NCBI36
NG_028282.1:g.103609G>T , LRG_371:g.103609G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.480G>T
ENST00000687688.1:n.1211G>T
ENST00000692906.1:n.1180G>T
ENST00000216484.7:c.1448G>T MANE Select	ENSP00000216484.2:p.Gly483Val
ENST00000216484.6:c.1448G>T	ENSP00000216484.2:p.Gly483Val
ENST00000556607.1:c.276G>T	ENSP00000451029.1:n.276G>T
NM_004863.3:c.1448G>T , LRG_371t1:c.1448G>T	NP_004854.1:p.Gly483Val
NM_004863.4:c.1448G>T MANE Select	NP_004854.1:p.Gly483Val