Canonical Allele Identifier: CA7289146
Gene: SPTLC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 639087
ClinVar RCV Id: RCV000791801
dbSNP Id: rs755350573
ExAC: 14:77984499 C / T
gnomAD v2: 14-77984499-C-T
gnomAD v3: 14-77518156-C-T
gnomAD v4: 14-77518156-C-T
MyVariant Identifiers: chr14:g.77984499C>T (hg19) chr14:g.77518156C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518156C>T , CM000676.2:g.77518156C>T GRCh38
NC_000014.8:g.77984499C>T , CM000676.1:g.77984499C>T GRCh37
NC_000014.7:g.77054252C>T NCBI36
NG_028282.1:g.103612G>A , LRG_371:g.103612G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.483G>A
ENST00000687688.1:n.1214G>A
ENST00000692906.1:n.1183G>A
ENST00000216484.7:c.1451G>A MANE Select ENSP00000216484.2:p.Arg484Gln
ENST00000216484.6:c.1451G>A ENSP00000216484.2:p.Arg484Gln
ENST00000556607.1:c.279G>A ENSP00000451029.1:n.279G>A
NM_004863.3:c.1451G>A , LRG_371t1:c.1451G>A NP_004854.1:p.Arg484Gln
NM_004863.4:c.1451G>A MANE Select NP_004854.1:p.Arg484Gln
Search 100 bp 5'
Search 100 bp 3'