Canonical Allele Identifier: CA487325194
Gene: SPTLC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.77984381A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518038A>C , CM000676.2:g.77518038A>C GRCh38
NC_000014.8:g.77984381A>C , CM000676.1:g.77984381A>C GRCh37
NC_000014.7:g.77054134A>C NCBI36
NG_028282.1:g.103730T>G , LRG_371:g.103730T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.601T>G
ENST00000687688.1:n.1332T>G
ENST00000692906.1:n.1301T>G
ENST00000216484.7:c.1569T>G MANE Select ENSP00000216484.2:p.Thr523=
ENST00000216484.6:c.1569T>G ENSP00000216484.2:p.Thr523=
ENST00000556607.1:c.397T>G ENSP00000451029.1:n.397T>G
NM_004863.3:c.1569T>G , LRG_371t1:c.1569T>G NP_004854.1:p.Thr523=
NM_004863.4:c.1569T>G MANE Select NP_004854.1:p.Thr523=
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