Canonical Allele Identifier: CA487325231

Gene: SPTLC2

Linked Data

• dbSNP Id: rs1352208542
• MyVariant Identifiers: chr14:g.77984402A>G (hg19) ; chr14:g.77518059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518059A>G , CM000676.2:g.77518059A>G	GRCh38
NC_000014.8:g.77984402A>G , CM000676.1:g.77984402A>G	GRCh37
NC_000014.7:g.77054155A>G	NCBI36
NG_028282.1:g.103709T>C , LRG_371:g.103709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.580T>C
ENST00000687688.1:n.1311T>C
ENST00000692906.1:n.1280T>C
ENST00000216484.7:c.1548T>C MANE Select	ENSP00000216484.2:p.His516=
ENST00000216484.6:c.1548T>C	ENSP00000216484.2:p.His516=
ENST00000556607.1:c.376T>C	ENSP00000451029.1:n.376T>C
NM_004863.3:c.1548T>C , LRG_371t1:c.1548T>C	NP_004854.1:p.His516=
NM_004863.4:c.1548T>C MANE Select	NP_004854.1:p.His516=