Canonical Allele Identifier: CA2148430912
Gene: SPTLC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518268G= , CM000676.2:g.77518268G= GRCh38
NC_000014.8:g.77984611G= , CM000676.1:g.77984611G= GRCh37
NC_000014.7:g.77054364G= NCBI36
NG_028282.1:g.103500C= , LRG_371:g.103500C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.472-101C=
ENST00000687688.1:n.1203-101C=
ENST00000692906.1:n.1172-101C=
ENST00000216484.7:c.1440-101C= MANE Select ENSP00000216484.2:n.1440-101C=
ENST00000216484.6:c.1440-101C= ENSP00000216484.2:n.1440-101C=
ENST00000556607.1:c.268-101C= ENSP00000451029.1:n.268-101C=
NM_004863.3:c.1440-101C= , LRG_371t1:c.1440-101C= NP_004854.1:n.1440-101C=
NM_004863.4:c.1440-101C= MANE Select NP_004854.1:n.1440-101C=