Canonical Allele Identifier: CA7289144
Gene: SPTLC2 HGNC NCBI

Linked Data

dbSNP Id: rs766840383
ExAC: 14:77984484 C / T
gnomAD v2: 14-77984484-C-T
gnomAD v4: 14-77518141-C-T
MyVariant Identifiers: chr14:g.77984484C>T (hg19) chr14:g.77518141C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518141C>T , CM000676.2:g.77518141C>T GRCh38
NC_000014.8:g.77984484C>T , CM000676.1:g.77984484C>T GRCh37
NC_000014.7:g.77054237C>T NCBI36
NG_028282.1:g.103627G>A , LRG_371:g.103627G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.498G>A
ENST00000687688.1:n.1229G>A
ENST00000692906.1:n.1198G>A
ENST00000216484.7:c.1466G>A MANE Select ENSP00000216484.2:p.Arg489Gln
ENST00000216484.6:c.1466G>A ENSP00000216484.2:p.Arg489Gln
ENST00000556607.1:c.294G>A ENSP00000451029.1:n.294G>A
NM_004863.3:c.1466G>A , LRG_371t1:c.1466G>A NP_004854.1:p.Arg489Gln
NM_004863.4:c.1466G>A MANE Select NP_004854.1:p.Arg489Gln
Search 100 bp 5'
Search 100 bp 3'