Canonical Allele Identifier: CA390699822
Gene: SPTLC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.77984409G>C (hg19) chr14:g.77518066G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518066G>C , CM000676.2:g.77518066G>C GRCh38
NC_000014.8:g.77984409G>C , CM000676.1:g.77984409G>C GRCh37
NC_000014.7:g.77054162G>C NCBI36
NG_028282.1:g.103702C>G , LRG_371:g.103702C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.573C>G
ENST00000687688.1:n.1304C>G
ENST00000692906.1:n.1273C>G
ENST00000216484.7:c.1541C>G MANE Select ENSP00000216484.2:p.Ala514Gly
ENST00000216484.6:c.1541C>G ENSP00000216484.2:p.Ala514Gly
ENST00000556607.1:c.369C>G ENSP00000451029.1:n.369C>G
NM_004863.3:c.1541C>G , LRG_371t1:c.1541C>G NP_004854.1:p.Ala514Gly
NM_004863.4:c.1541C>G MANE Select NP_004854.1:p.Ala514Gly
Search 100 bp 5'
Search 100 bp 3'