Canonical Allele Identifier: CA2802247589

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77517991C>A , CM000676.2:g.77517991C>A	GRCh38
NC_000014.8:g.77984334C>A , CM000676.1:g.77984334C>A	GRCh37
NC_000014.7:g.77054087C>A	NCBI36
NG_028282.1:g.103777G>T , LRG_371:g.103777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.601+47G>T
ENST00000687688.1:n.1332+47G>T
ENST00000692906.1:n.1301+47G>T
ENST00000216484.7:c.1569+47G>T MANE Select	ENSP00000216484.2:n.1569+47G>T
ENST00000216484.6:c.1569+47G>T	ENSP00000216484.2:n.1569+47G>T
ENST00000556607.1:c.397+47G>T	ENSP00000451029.1:n.397+47G>T
NM_004863.3:c.1569+47G>T , LRG_371t1:c.1569+47G>T	NP_004854.1:n.1569+47G>T
NM_004863.4:c.1569+47G>T MANE Select	NP_004854.1:n.1569+47G>T