Canonical Allele Identifier: CA2830548276

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77517889_77517890insC , CM000676.2:g.77517889_77517890insC	GRCh38
NC_000014.8:g.77984232_77984233insC , CM000676.1:g.77984232_77984233insC	GRCh37
NC_000014.7:g.77053985_77053986insC	NCBI36
NG_028282.1:g.103878_103879insG , LRG_371:g.103878_103879insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.601+148_601+149insG
ENST00000687688.1:n.1332+148_1332+149insG
ENST00000692906.1:n.1301+148_1301+149insG
ENST00000216484.7:c.1569+148_1569+149insG MANE Select	ENSP00000216484.2:n.1569+148_1569+149insG
ENST00000216484.6:c.1569+148_1569+149insG	ENSP00000216484.2:n.1569+148_1569+149insG
ENST00000556607.1:c.397+148_397+149insG	ENSP00000451029.1:n.397+148_397+149insG
NM_004863.3:c.1569+148_1569+149insG , LRG_371t1:c.1569+148_1569+149insG	NP_004854.1:n.1569+148_1569+149insG
NM_004863.4:c.1569+148_1569+149insG MANE Select	NP_004854.1:n.1569+148_1569+149insG