Canonical Allele Identifier: CA2625880783
Gene: SPTLC2 HGNC NCBI

Linked Data

gnomAD v4: 14-77518206-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518206G>T , CM000676.2:g.77518206G>T GRCh38
NC_000014.8:g.77984549G>T , CM000676.1:g.77984549G>T GRCh37
NC_000014.7:g.77054302G>T NCBI36
NG_028282.1:g.103562C>A , LRG_371:g.103562C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.472-39C>A
ENST00000687688.1:n.1203-39C>A
ENST00000692906.1:n.1172-39C>A
ENST00000216484.7:c.1440-39C>A MANE Select ENSP00000216484.2:n.1440-39C>A
ENST00000216484.6:c.1440-39C>A ENSP00000216484.2:n.1440-39C>A
ENST00000556607.1:c.268-39C>A ENSP00000451029.1:n.268-39C>A
NM_004863.3:c.1440-39C>A , LRG_371t1:c.1440-39C>A NP_004854.1:n.1440-39C>A
NM_004863.4:c.1440-39C>A MANE Select NP_004854.1:n.1440-39C>A
Search 100 bp 5'
Search 100 bp 3'