Canonical Allele Identifier: CA390699871
Gene: SPTLC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518080C>G , CM000676.2:g.77518080C>G GRCh38
NC_000014.8:g.77984423C>G , CM000676.1:g.77984423C>G GRCh37
NC_000014.7:g.77054176C>G NCBI36
NG_028282.1:g.103688G>C , LRG_371:g.103688G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.559G>C
ENST00000687688.1:n.1290G>C
ENST00000692906.1:n.1259G>C
ENST00000216484.7:c.1527G>C MANE Select ENSP00000216484.2:p.Arg509Ser
ENST00000216484.6:c.1527G>C ENSP00000216484.2:p.Arg509Ser
ENST00000556607.1:c.355G>C ENSP00000451029.1:n.355G>C
NM_004863.3:c.1527G>C , LRG_371t1:c.1527G>C NP_004854.1:p.Arg509Ser
NM_004863.4:c.1527G>C MANE Select NP_004854.1:p.Arg509Ser