Canonical Allele Identifier: CA2148430720

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518122_77518125delinsCACA , CM000676.2:g.77518122_77518125delinsCACA	GRCh38
NC_000014.8:g.77984465_77984468delinsCACA , CM000676.1:g.77984465_77984468delinsCACA	GRCh37
NC_000014.7:g.77054218_77054221delinsCACA	NCBI36
NG_028282.1:g.103643_103646delinsTGTG , LRG_371:g.103643_103646delinsTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.514_517delinsTGTG
ENST00000687688.1:n.1245_1248delinsTGTG
ENST00000692906.1:n.1214_1217delinsTGTG
ENST00000216484.7:c.1482_1485delinsTGTG MANE Select	ENSP00000216484.2:p.Val494=
ENST00000216484.6:c.1482_1485delinsTGTG	ENSP00000216484.2:p.Val494=
ENST00000556607.1:c.310_313delinsTGTG	ENSP00000451029.1:n.310_313delinsTGTG
NM_004863.3:c.1482_1485delinsTGTG , LRG_371t1:c.1482_1485delinsTGTG	NP_004854.1:p.Val494=
NM_004863.4:c.1482_1485delinsTGTG MANE Select	NP_004854.1:p.Val494=