Canonical Allele Identifier: CA2575590014
Gene: SPTLC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77517971T>A , CM000676.2:g.77517971T>A GRCh38
NC_000014.8:g.77984314T>A , CM000676.1:g.77984314T>A GRCh37
NC_000014.7:g.77054067T>A NCBI36
NG_028282.1:g.103797A>T , LRG_371:g.103797A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.601+67A>T
ENST00000687688.1:n.1332+67A>T
ENST00000692906.1:n.1301+67A>T
ENST00000216484.7:c.1569+67A>T MANE Select ENSP00000216484.2:n.1569+67A>T
ENST00000216484.6:c.1569+67A>T ENSP00000216484.2:n.1569+67A>T
ENST00000556607.1:c.397+67A>T ENSP00000451029.1:n.397+67A>T
NM_004863.3:c.1569+67A>T , LRG_371t1:c.1569+67A>T NP_004854.1:n.1569+67A>T
NM_004863.4:c.1569+67A>T MANE Select NP_004854.1:n.1569+67A>T