Canonical Allele Identifier: CA263825310
Gene: SPTLC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1993531
ClinVar RCV Id: RCV002801467
dbSNP Id: rs1018153034
gnomAD v4: 14-77518065-T-C
MyVariant Identifiers: chr14:g.77984408T>C (hg19) chr14:g.77518065T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518065T>C , CM000676.2:g.77518065T>C GRCh38
NC_000014.8:g.77984408T>C , CM000676.1:g.77984408T>C GRCh37
NC_000014.7:g.77054161T>C NCBI36
NG_028282.1:g.103703A>G , LRG_371:g.103703A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.574A>G
ENST00000687688.1:n.1305A>G
ENST00000692906.1:n.1274A>G
ENST00000216484.7:c.1542A>G MANE Select ENSP00000216484.2:p.Ala514=
ENST00000216484.6:c.1542A>G ENSP00000216484.2:p.Ala514=
ENST00000556607.1:c.370A>G ENSP00000451029.1:n.370A>G
NM_004863.3:c.1542A>G , LRG_371t1:c.1542A>G NP_004854.1:p.Ala514=
NM_004863.4:c.1542A>G MANE Select NP_004854.1:p.Ala514=
Search 100 bp 5'
Search 100 bp 3'