Canonical Allele Identifier: CA390700026
Gene: SPTLC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518123A>T , CM000676.2:g.77518123A>T GRCh38
NC_000014.8:g.77984466A>T , CM000676.1:g.77984466A>T GRCh37
NC_000014.7:g.77054219A>T NCBI36
NG_028282.1:g.103645T>A , LRG_371:g.103645T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.516T>A
ENST00000687688.1:n.1247T>A
ENST00000692906.1:n.1216T>A
ENST00000216484.7:c.1484T>A MANE Select ENSP00000216484.2:p.Val495Glu
ENST00000216484.6:c.1484T>A ENSP00000216484.2:p.Val495Glu
ENST00000556607.1:c.312T>A ENSP00000451029.1:n.312T>A
NM_004863.3:c.1484T>A , LRG_371t1:c.1484T>A NP_004854.1:p.Val495Glu
NM_004863.4:c.1484T>A MANE Select NP_004854.1:p.Val495Glu