Canonical Allele Identifier: CA390699792
Gene: SPTLC2 HGNC NCBI

Linked Data

gnomAD v4: 14-77518052-C-T
MyVariant Identifiers: chr14:g.77984395C>T (hg19) chr14:g.77518052C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518052C>T , CM000676.2:g.77518052C>T GRCh38
NC_000014.8:g.77984395C>T , CM000676.1:g.77984395C>T GRCh37
NC_000014.7:g.77054148C>T NCBI36
NG_028282.1:g.103716G>A , LRG_371:g.103716G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.587G>A
ENST00000687688.1:n.1318G>A
ENST00000692906.1:n.1287G>A
ENST00000216484.7:c.1555G>A MANE Select ENSP00000216484.2:p.Glu519Lys
ENST00000216484.6:c.1555G>A ENSP00000216484.2:p.Glu519Lys
ENST00000556607.1:c.383G>A ENSP00000451029.1:n.383G>A
NM_004863.3:c.1555G>A , LRG_371t1:c.1555G>A NP_004854.1:p.Glu519Lys
NM_004863.4:c.1555G>A MANE Select NP_004854.1:p.Glu519Lys
Search 100 bp 5'
Search 100 bp 3'