Canonical Allele Identifier: CA7289133
Gene: SPTLC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1367650
ClinVar RCV Id: RCV001947395
dbSNP Id: rs577069180
ExAC: 14:77984373 C / T
gnomAD v2: 14-77984373-C-T
gnomAD v3: 14-77518030-C-T
gnomAD v4: 14-77518030-C-T
MyVariant Identifiers: chr14:g.77984373C>T (hg19) chr14:g.77518030C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518030C>T , CM000676.2:g.77518030C>T GRCh38
NC_000014.8:g.77984373C>T , CM000676.1:g.77984373C>T GRCh37
NC_000014.7:g.77054126C>T NCBI36
NG_028282.1:g.103738G>A , LRG_371:g.103738G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.601+8G>A
ENST00000687688.1:n.1332+8G>A
ENST00000692906.1:n.1301+8G>A
ENST00000216484.7:c.1569+8G>A MANE Select ENSP00000216484.2:n.1569+8G>A
ENST00000216484.6:c.1569+8G>A ENSP00000216484.2:n.1569+8G>A
ENST00000556607.1:c.397+8G>A ENSP00000451029.1:n.397+8G>A
NM_004863.3:c.1569+8G>A , LRG_371t1:c.1569+8G>A NP_004854.1:n.1569+8G>A
NM_004863.4:c.1569+8G>A MANE Select NP_004854.1:n.1569+8G>A
Search 100 bp 5'
Search 100 bp 3'