Canonical Allele Identifier: CA2625880781
Gene: SPTLC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518203del , CM000676.2:g.77518203del GRCh38
NC_000014.8:g.77984546del , CM000676.1:g.77984546del GRCh37
NC_000014.7:g.77054299del NCBI36
NG_028282.1:g.103565del , LRG_371:g.103565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.472-36del
ENST00000687688.1:n.1203-36del
ENST00000692906.1:n.1172-36del
ENST00000216484.7:c.1440-36del MANE Select ENSP00000216484.2:n.1440-36del
ENST00000216484.6:c.1440-36del ENSP00000216484.2:n.1440-36del
ENST00000556607.1:c.268-36del ENSP00000451029.1:n.268-36del
NM_004863.3:c.1440-36del , LRG_371t1:c.1440-36del NP_004854.1:n.1440-36del
NM_004863.4:c.1440-36del MANE Select NP_004854.1:n.1440-36del