Canonical Allele Identifier: CA390699815

Gene: SPTLC2

Linked Data

• ClinVar Variation Id: 2691427
• ClinVar RCV Id: RCV003489680
• MyVariant Identifiers: chr14:g.77984406G>A (hg19) ; chr14:g.77518063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518063G>A , CM000676.2:g.77518063G>A	GRCh38
NC_000014.8:g.77984406G>A , CM000676.1:g.77984406G>A	GRCh37
NC_000014.7:g.77054159G>A	NCBI36
NG_028282.1:g.103705C>T , LRG_371:g.103705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.576C>T
ENST00000687688.1:n.1307C>T
ENST00000692906.1:n.1276C>T
ENST00000216484.7:c.1544C>T MANE Select	ENSP00000216484.2:p.Ala515Val
ENST00000216484.6:c.1544C>T	ENSP00000216484.2:p.Ala515Val
ENST00000556607.1:c.372C>T	ENSP00000451029.1:n.372C>T
NM_004863.3:c.1544C>T , LRG_371t1:c.1544C>T	NP_004854.1:p.Ala515Val
NM_004863.4:c.1544C>T MANE Select	NP_004854.1:p.Ala515Val