Canonical Allele Identifier: CA2625880692
Gene: SPTLC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77517938C>T , CM000676.2:g.77517938C>T GRCh38
NC_000014.8:g.77984281C>T , CM000676.1:g.77984281C>T GRCh37
NC_000014.7:g.77054034C>T NCBI36
NG_028282.1:g.103830G>A , LRG_371:g.103830G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.601+100G>A
ENST00000687688.1:n.1332+100G>A
ENST00000692906.1:n.1301+100G>A
ENST00000216484.7:c.1569+100G>A MANE Select ENSP00000216484.2:n.1569+100G>A
ENST00000216484.6:c.1569+100G>A ENSP00000216484.2:n.1569+100G>A
ENST00000556607.1:c.397+100G>A ENSP00000451029.1:n.397+100G>A
NM_004863.3:c.1569+100G>A , LRG_371t1:c.1569+100G>A NP_004854.1:n.1569+100G>A
NM_004863.4:c.1569+100G>A MANE Select NP_004854.1:n.1569+100G>A