Canonical Allele Identifier: CA390700170

Gene: SPTLC2

Linked Data

• MyVariant Identifiers: chr14:g.77984506A>G (hg19) ; chr14:g.77518163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518163A>G , CM000676.2:g.77518163A>G	GRCh38
NC_000014.8:g.77984506A>G , CM000676.1:g.77984506A>G	GRCh37
NC_000014.7:g.77054259A>G	NCBI36
NG_028282.1:g.103605T>C , LRG_371:g.103605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.476T>C
ENST00000687688.1:n.1207T>C
ENST00000692906.1:n.1176T>C
ENST00000216484.7:c.1444T>C MANE Select	ENSP00000216484.2:p.Phe482Leu
ENST00000216484.6:c.1444T>C	ENSP00000216484.2:p.Phe482Leu
ENST00000556607.1:c.272T>C	ENSP00000451029.1:n.272T>C
NM_004863.3:c.1444T>C , LRG_371t1:c.1444T>C	NP_004854.1:p.Phe482Leu
NM_004863.4:c.1444T>C MANE Select	NP_004854.1:p.Phe482Leu