Canonical Allele Identifier: CA2148430620
Gene: SPTLC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77517870G= , CM000676.2:g.77517870G= GRCh38
NC_000014.8:g.77984213G= , CM000676.1:g.77984213G= GRCh37
NC_000014.7:g.77053966G= NCBI36
NG_028282.1:g.103898C= , LRG_371:g.103898C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.601+168C=
ENST00000687688.1:n.1332+168C=
ENST00000692906.1:n.1301+168C=
ENST00000216484.7:c.1569+168C= MANE Select ENSP00000216484.2:n.1569+168C=
ENST00000216484.6:c.1569+168C= ENSP00000216484.2:n.1569+168C=
ENST00000556607.1:c.397+168C= ENSP00000451029.1:n.397+168C=
NM_004863.3:c.1569+168C= , LRG_371t1:c.1569+168C= NP_004854.1:n.1569+168C=
NM_004863.4:c.1569+168C= MANE Select NP_004854.1:n.1569+168C=
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