Canonical Allele Identifier: CA7289127
Gene: SPTLC2 HGNC NCBI

Linked Data

dbSNP Id: rs766752265
ExAC: 14:77984337 T / C
gnomAD v2: 14-77984337-T-C
gnomAD v4: 14-77517994-T-C
MyVariant Identifiers: chr14:g.77984337T>C (hg19) chr14:g.77517994T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77517994T>C , CM000676.2:g.77517994T>C GRCh38
NC_000014.8:g.77984337T>C , CM000676.1:g.77984337T>C GRCh37
NC_000014.7:g.77054090T>C NCBI36
NG_028282.1:g.103774A>G , LRG_371:g.103774A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.601+44A>G
ENST00000687688.1:n.1332+44A>G
ENST00000692906.1:n.1301+44A>G
ENST00000216484.7:c.1569+44A>G MANE Select ENSP00000216484.2:n.1569+44A>G
ENST00000216484.6:c.1569+44A>G ENSP00000216484.2:n.1569+44A>G
ENST00000556607.1:c.397+44A>G ENSP00000451029.1:n.397+44A>G
NM_004863.3:c.1569+44A>G , LRG_371t1:c.1569+44A>G NP_004854.1:n.1569+44A>G
NM_004863.4:c.1569+44A>G MANE Select NP_004854.1:n.1569+44A>G
Search 100 bp 5'
Search 100 bp 3'