Canonical Allele Identifier: CA2575590020

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518099dup , CM000676.2:g.77518099dup	GRCh38
NC_000014.8:g.77984442dup , CM000676.1:g.77984442dup	GRCh37
NC_000014.7:g.77054195dup	NCBI36
NG_028282.1:g.103670dup , LRG_371:g.103670dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.541dup
ENST00000687688.1:n.1272dup
ENST00000692906.1:n.1241dup
ENST00000216484.7:c.1509dup MANE Select	ENSP00000216484.2:p.Ile504TyrfsTer2
ENST00000216484.6:c.1509dup	ENSP00000216484.2:p.Ile504TyrfsTer2
ENST00000556607.1:c.337dup	ENSP00000451029.1:n.337dup
NM_004863.3:c.1509dup , LRG_371t1:c.1509dup	NP_004854.1:p.Ile504TyrfsTer2
NM_004863.4:c.1509dup MANE Select	NP_004854.1:p.Ile504TyrfsTer2