Canonical Allele Identifier: CA2625880714
Gene: SPTLC2 HGNC NCBI

Linked Data

gnomAD v4: 14-77518017-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518017A>T , CM000676.2:g.77518017A>T GRCh38
NC_000014.8:g.77984360A>T , CM000676.1:g.77984360A>T GRCh37
NC_000014.7:g.77054113A>T NCBI36
NG_028282.1:g.103751T>A , LRG_371:g.103751T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000686627.1:n.601+21T>A
ENST00000687688.1:n.1332+21T>A
ENST00000692906.1:n.1301+21T>A
ENST00000216484.7:c.1569+21T>A MANE Select ENSP00000216484.2:n.1569+21T>A
ENST00000216484.6:c.1569+21T>A ENSP00000216484.2:n.1569+21T>A
ENST00000556607.1:c.397+21T>A ENSP00000451029.1:n.397+21T>A
NM_004863.3:c.1569+21T>A , LRG_371t1:c.1569+21T>A NP_004854.1:n.1569+21T>A
NM_004863.4:c.1569+21T>A MANE Select NP_004854.1:n.1569+21T>A
Search 100 bp 5'
Search 100 bp 3'