Canonical Allele Identifier: CA390700031
Gene: SPTLC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 538851
ClinVar RCV Id: RCV000648362
dbSNP Id: rs1555372983
MyVariant Identifiers: chr14:g.77984469A>G (hg19) chr14:g.77518126A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518126A>G , CM000676.2:g.77518126A>G GRCh38
NC_000014.8:g.77984469A>G , CM000676.1:g.77984469A>G GRCh37
NC_000014.7:g.77054222A>G NCBI36
NG_028282.1:g.103642T>C , LRG_371:g.103642T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.513T>C
ENST00000687688.1:n.1244T>C
ENST00000692906.1:n.1213T>C
ENST00000216484.7:c.1481T>C MANE Select ENSP00000216484.2:p.Val494Ala
ENST00000216484.6:c.1481T>C ENSP00000216484.2:p.Val494Ala
ENST00000556607.1:c.309T>C ENSP00000451029.1:n.309T>C
NM_004863.3:c.1481T>C , LRG_371t1:c.1481T>C NP_004854.1:p.Val494Ala
NM_004863.4:c.1481T>C MANE Select NP_004854.1:p.Val494Ala
Search 100 bp 5'
Search 100 bp 3'