Canonical Allele Identifier: CA2148430661

Gene: SPTLC2

Linked Data

• dbSNP Id: rs2079367175

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77517983_77517984del , CM000676.2:g.77517983_77517984del	GRCh38
NC_000014.8:g.77984326_77984327del , CM000676.1:g.77984326_77984327del	GRCh37
NC_000014.7:g.77054079_77054080del	NCBI36
NG_028282.1:g.103787_103788del , LRG_371:g.103787_103788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.601+57_601+58del
ENST00000687688.1:n.1332+57_1332+58del
ENST00000692906.1:n.1301+57_1301+58del
ENST00000216484.7:c.1569+57_1569+58del MANE Select	ENSP00000216484.2:n.1569+57_1569+58del
ENST00000216484.6:c.1569+57_1569+58del	ENSP00000216484.2:n.1569+57_1569+58del
ENST00000556607.1:c.397+57_397+58del	ENSP00000451029.1:n.397+57_397+58del
NM_004863.3:c.1569+57_1569+58del , LRG_371t1:c.1569+57_1569+58del	NP_004854.1:n.1569+57_1569+58del
NM_004863.4:c.1569+57_1569+58del MANE Select	NP_004854.1:n.1569+57_1569+58del