Canonical Allele Identifier: CA487325267
Gene: SPTLC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.77984431T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518088T>G , CM000676.2:g.77518088T>G GRCh38
NC_000014.8:g.77984431T>G , CM000676.1:g.77984431T>G GRCh37
NC_000014.7:g.77054184T>G NCBI36
NG_028282.1:g.103680A>C , LRG_371:g.103680A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.551A>C
ENST00000687688.1:n.1282A>C
ENST00000692906.1:n.1251A>C
ENST00000216484.7:c.1519A>C MANE Select ENSP00000216484.2:p.Arg507=
ENST00000216484.6:c.1519A>C ENSP00000216484.2:p.Arg507=
ENST00000556607.1:c.347A>C ENSP00000451029.1:n.347A>C
NM_004863.3:c.1519A>C , LRG_371t1:c.1519A>C NP_004854.1:p.Arg507=
NM_004863.4:c.1519A>C MANE Select NP_004854.1:p.Arg507=