Canonical Allele Identifier: CA390699763
Gene: SPTLC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1393703
ClinVar RCV Id: RCV001927210
dbSNP Id: rs2139992960
gnomAD v4: 14-77518040-T-G
MyVariant Identifiers: chr14:g.77984383T>G (hg19) chr14:g.77518040T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518040T>G , CM000676.2:g.77518040T>G GRCh38
NC_000014.8:g.77984383T>G , CM000676.1:g.77984383T>G GRCh37
NC_000014.7:g.77054136T>G NCBI36
NG_028282.1:g.103728A>C , LRG_371:g.103728A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.599A>C
ENST00000687688.1:n.1330A>C
ENST00000692906.1:n.1299A>C
ENST00000216484.7:c.1567A>C MANE Select ENSP00000216484.2:p.Thr523Pro
ENST00000216484.6:c.1567A>C ENSP00000216484.2:p.Thr523Pro
ENST00000556607.1:c.395A>C ENSP00000451029.1:n.395A>C
NM_004863.3:c.1567A>C , LRG_371t1:c.1567A>C NP_004854.1:p.Thr523Pro
NM_004863.4:c.1567A>C MANE Select NP_004854.1:p.Thr523Pro
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