Canonical Allele Identifier: CA2148430667
Gene: SPTLC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77517994T= , CM000676.2:g.77517994T= GRCh38
NC_000014.8:g.77984337T= , CM000676.1:g.77984337T= GRCh37
NC_000014.7:g.77054090T= NCBI36
NG_028282.1:g.103774A= , LRG_371:g.103774A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.601+44A=
ENST00000687688.1:n.1332+44A=
ENST00000692906.1:n.1301+44A=
ENST00000216484.7:c.1569+44A= MANE Select ENSP00000216484.2:n.1569+44A=
ENST00000216484.6:c.1569+44A= ENSP00000216484.2:n.1569+44A=
ENST00000556607.1:c.397+44A= ENSP00000451029.1:n.397+44A=
NM_004863.3:c.1569+44A= , LRG_371t1:c.1569+44A= NP_004854.1:n.1569+44A=
NM_004863.4:c.1569+44A= MANE Select NP_004854.1:n.1569+44A=