Canonical Allele Identifier: CA487325313
Gene: SPTLC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.77984477G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518134G>T , CM000676.2:g.77518134G>T GRCh38
NC_000014.8:g.77984477G>T , CM000676.1:g.77984477G>T GRCh37
NC_000014.7:g.77054230G>T NCBI36
NG_028282.1:g.103634C>A , LRG_371:g.103634C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.505C>A
ENST00000687688.1:n.1236C>A
ENST00000692906.1:n.1205C>A
ENST00000216484.7:c.1473C>A MANE Select ENSP00000216484.2:p.Ile491=
ENST00000216484.6:c.1473C>A ENSP00000216484.2:p.Ile491=
ENST00000556607.1:c.301C>A ENSP00000451029.1:n.301C>A
NM_004863.3:c.1473C>A , LRG_371t1:c.1473C>A NP_004854.1:p.Ile491=
NM_004863.4:c.1473C>A MANE Select NP_004854.1:p.Ile491=