Canonical Allele Identifier: CA390699784
Gene: SPTLC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.77984392T>C (hg19) chr14:g.77518049T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518049T>C , CM000676.2:g.77518049T>C GRCh38
NC_000014.8:g.77984392T>C , CM000676.1:g.77984392T>C GRCh37
NC_000014.7:g.77054145T>C NCBI36
NG_028282.1:g.103719A>G , LRG_371:g.103719A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.590A>G
ENST00000687688.1:n.1321A>G
ENST00000692906.1:n.1290A>G
ENST00000216484.7:c.1558A>G MANE Select ENSP00000216484.2:p.Ile520Val
ENST00000216484.6:c.1558A>G ENSP00000216484.2:p.Ile520Val
ENST00000556607.1:c.386A>G ENSP00000451029.1:n.386A>G
NM_004863.3:c.1558A>G , LRG_371t1:c.1558A>G NP_004854.1:p.Ile520Val
NM_004863.4:c.1558A>G MANE Select NP_004854.1:p.Ile520Val
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