Canonical Allele Identifier: CA390699816
Gene: SPTLC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518063G>C , CM000676.2:g.77518063G>C GRCh38
NC_000014.8:g.77984406G>C , CM000676.1:g.77984406G>C GRCh37
NC_000014.7:g.77054159G>C NCBI36
NG_028282.1:g.103705C>G , LRG_371:g.103705C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.576C>G
ENST00000687688.1:n.1307C>G
ENST00000692906.1:n.1276C>G
ENST00000216484.7:c.1544C>G MANE Select ENSP00000216484.2:p.Ala515Gly
ENST00000216484.6:c.1544C>G ENSP00000216484.2:p.Ala515Gly
ENST00000556607.1:c.372C>G ENSP00000451029.1:n.372C>G
NM_004863.3:c.1544C>G , LRG_371t1:c.1544C>G NP_004854.1:p.Ala515Gly
NM_004863.4:c.1544C>G MANE Select NP_004854.1:p.Ala515Gly