Canonical Allele Identifier: CA7289150
Gene: SPTLC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2740592
ClinVar RCV Id: RCV003527342
dbSNP Id: rs780807321
ExAC: 14:77984510 G / A
gnomAD v2: 14-77984510-G-A
gnomAD v3: 14-77518167-G-A
gnomAD v4: 14-77518167-G-A
MyVariant Identifiers: chr14:g.77984510G>A (hg19) chr14:g.77518167G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518167G>A , CM000676.2:g.77518167G>A GRCh38
NC_000014.8:g.77984510G>A , CM000676.1:g.77984510G>A GRCh37
NC_000014.7:g.77054263G>A NCBI36
NG_028282.1:g.103601C>T , LRG_371:g.103601C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.472C>T
ENST00000687688.1:n.1203C>T
ENST00000692906.1:n.1172C>T
ENST00000216484.7:c.1440C>T MANE Select ENSP00000216484.2:p.Gly480=
ENST00000216484.6:c.1440C>T ENSP00000216484.2:p.Gly480=
ENST00000556607.1:c.268C>T ENSP00000451029.1:n.268C>T
NM_004863.3:c.1440C>T , LRG_371t1:c.1440C>T NP_004854.1:p.Gly480=
NM_004863.4:c.1440C>T MANE Select NP_004854.1:p.Gly480=
Search 100 bp 5'
Search 100 bp 3'