Canonical Allele Identifier: CA487325299
Gene: SPTLC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.77984462A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518119A>C , CM000676.2:g.77518119A>C GRCh38
NC_000014.8:g.77984462A>C , CM000676.1:g.77984462A>C GRCh37
NC_000014.7:g.77054215A>C NCBI36
NG_028282.1:g.103649T>G , LRG_371:g.103649T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.520T>G
ENST00000687688.1:n.1251T>G
ENST00000692906.1:n.1220T>G
ENST00000216484.7:c.1488T>G MANE Select ENSP00000216484.2:p.Val496=
ENST00000216484.6:c.1488T>G ENSP00000216484.2:p.Val496=
ENST00000556607.1:c.316T>G ENSP00000451029.1:n.316T>G
NM_004863.3:c.1488T>G , LRG_371t1:c.1488T>G NP_004854.1:p.Val496=
NM_004863.4:c.1488T>G MANE Select NP_004854.1:p.Val496=