Canonical Allele Identifier: CA2148430901
Gene: SPTLC2 HGNC NCBI

Linked Data

dbSNP Id: rs2079368526
gnomAD v4: 14-77518246-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518246T>C , CM000676.2:g.77518246T>C GRCh38
NC_000014.8:g.77984589T>C , CM000676.1:g.77984589T>C GRCh37
NC_000014.7:g.77054342T>C NCBI36
NG_028282.1:g.103522A>G , LRG_371:g.103522A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.472-79A>G
ENST00000687688.1:n.1203-79A>G
ENST00000692906.1:n.1172-79A>G
ENST00000216484.7:c.1440-79A>G MANE Select ENSP00000216484.2:n.1440-79A>G
ENST00000216484.6:c.1440-79A>G ENSP00000216484.2:n.1440-79A>G
ENST00000556607.1:c.268-79A>G ENSP00000451029.1:n.268-79A>G
NM_004863.3:c.1440-79A>G , LRG_371t1:c.1440-79A>G NP_004854.1:n.1440-79A>G
NM_004863.4:c.1440-79A>G MANE Select NP_004854.1:n.1440-79A>G
Search 100 bp 5'
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