Canonical Allele Identifier: CA2148430610
Gene: SPTLC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77517835_77517836delinsCG , CM000676.2:g.77517835_77517836delinsCG GRCh38
NC_000014.8:g.77984178_77984179delinsCG , CM000676.1:g.77984178_77984179delinsCG GRCh37
NC_000014.7:g.77053931_77053932delinsCG NCBI36
NG_028282.1:g.103932_103933delinsCG , LRG_371:g.103932_103933delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.601+202_601+203delinsCG
ENST00000687688.1:n.1332+202_1332+203delinsCG
ENST00000692906.1:n.1301+202_1301+203delinsCG
ENST00000216484.7:c.1569+202_1569+203delinsCG MANE Select ENSP00000216484.2:n.1569+202_1569+203delinsCG
ENST00000216484.6:c.1569+202_1569+203delinsCG ENSP00000216484.2:n.1569+202_1569+203delinsCG
ENST00000556607.1:c.397+202_397+203delinsCG ENSP00000451029.1:n.397+202_397+203delinsCG
NM_004863.3:c.1569+202_1569+203delinsCG , LRG_371t1:c.1569+202_1569+203delinsCG NP_004854.1:n.1569+202_1569+203delinsCG
NM_004863.4:c.1569+202_1569+203delinsCG MANE Select NP_004854.1:n.1569+202_1569+203delinsCG