Canonical Allele Identifier: CA2148430935
Gene: SPTLC2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518290G= , CM000676.2:g.77518290G= GRCh38
NC_000014.8:g.77984633G= , CM000676.1:g.77984633G= GRCh37
NC_000014.7:g.77054386G= NCBI36
NG_028282.1:g.103478C= , LRG_371:g.103478C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.472-123C=
ENST00000687688.1:n.1203-123C=
ENST00000692906.1:n.1172-123C=
ENST00000216484.7:c.1440-123C= MANE Select ENSP00000216484.2:n.1440-123C=
ENST00000216484.6:c.1440-123C= ENSP00000216484.2:n.1440-123C=
ENST00000556607.1:c.268-123C= ENSP00000451029.1:n.268-123C=
NM_004863.3:c.1440-123C= , LRG_371t1:c.1440-123C= NP_004854.1:n.1440-123C=
NM_004863.4:c.1440-123C= MANE Select NP_004854.1:n.1440-123C=
Search 100 bp 5'
Search 100 bp 3'