Canonical Allele Identifier: CA390699931
Gene: SPTLC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518095A>C , CM000676.2:g.77518095A>C GRCh38
NC_000014.8:g.77984438A>C , CM000676.1:g.77984438A>C GRCh37
NC_000014.7:g.77054191A>C NCBI36
NG_028282.1:g.103673T>G , LRG_371:g.103673T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.544T>G
ENST00000687688.1:n.1275T>G
ENST00000692906.1:n.1244T>G
ENST00000216484.7:c.1512T>G MANE Select ENSP00000216484.2:p.Ile504Met
ENST00000216484.6:c.1512T>G ENSP00000216484.2:p.Ile504Met
ENST00000556607.1:c.340T>G ENSP00000451029.1:n.340T>G
NM_004863.3:c.1512T>G , LRG_371t1:c.1512T>G NP_004854.1:p.Ile504Met
NM_004863.4:c.1512T>G MANE Select NP_004854.1:p.Ile504Met