Canonical Allele Identifier: CA7289135
Gene: SPTLC2 HGNC NCBI

Linked Data

dbSNP Id: rs769834951
ExAC: 14:77984389 G / T
gnomAD v2: 14-77984389-G-T
gnomAD v4: 14-77518046-G-T
MyVariant Identifiers: chr14:g.77984389G>T (hg19) chr14:g.77518046G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518046G>T , CM000676.2:g.77518046G>T GRCh38
NC_000014.8:g.77984389G>T , CM000676.1:g.77984389G>T GRCh37
NC_000014.7:g.77054142G>T NCBI36
NG_028282.1:g.103722C>A , LRG_371:g.103722C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.593C>A
ENST00000687688.1:n.1324C>A
ENST00000692906.1:n.1293C>A
ENST00000216484.7:c.1561C>A MANE Select ENSP00000216484.2:p.Leu521Ile
ENST00000216484.6:c.1561C>A ENSP00000216484.2:p.Leu521Ile
ENST00000556607.1:c.389C>A ENSP00000451029.1:n.389C>A
NM_004863.3:c.1561C>A , LRG_371t1:c.1561C>A NP_004854.1:p.Leu521Ile
NM_004863.4:c.1561C>A MANE Select NP_004854.1:p.Leu521Ile
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