Canonical Allele Identifier: CA390699770

Gene: SPTLC2

Linked Data

• MyVariant Identifiers: chr14:g.77984386C>G (hg19) ; chr14:g.77518043C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518043C>G , CM000676.2:g.77518043C>G	GRCh38
NC_000014.8:g.77984386C>G , CM000676.1:g.77984386C>G	GRCh37
NC_000014.7:g.77054139C>G	NCBI36
NG_028282.1:g.103725G>C , LRG_371:g.103725G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.596G>C
ENST00000687688.1:n.1327G>C
ENST00000692906.1:n.1296G>C
ENST00000216484.7:c.1564G>C MANE Select	ENSP00000216484.2:p.Asp522His
ENST00000216484.6:c.1564G>C	ENSP00000216484.2:p.Asp522His
ENST00000556607.1:c.392G>C	ENSP00000451029.1:n.392G>C
NM_004863.3:c.1564G>C , LRG_371t1:c.1564G>C	NP_004854.1:p.Asp522His
NM_004863.4:c.1564G>C MANE Select	NP_004854.1:p.Asp522His