Canonical Allele Identifier: CA487325335
Gene: SPTLC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.77984510G>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.472C>A
ENST00000687688.1:n.1203C>A
ENST00000692906.1:n.1172C>A
ENST00000216484.7:c.1440C>A MANE Select ENSP00000216484.2:p.Gly480=
ENST00000216484.6:c.1440C>A ENSP00000216484.2:p.Gly480=
ENST00000556607.1:c.268C>A ENSP00000451029.1:n.268C>A
NM_004863.3:c.1440C>A , LRG_371t1:c.1440C>A NP_004854.1:p.Gly480=
NM_004863.4:c.1440C>A MANE Select NP_004854.1:p.Gly480=