Canonical Allele Identifier: CA390700001

Gene: SPTLC2

Linked Data

• MyVariant Identifiers: chr14:g.77984457A>G (hg19) ; chr14:g.77518114A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518114A>G , CM000676.2:g.77518114A>G	GRCh38
NC_000014.8:g.77984457A>G , CM000676.1:g.77984457A>G	GRCh37
NC_000014.7:g.77054210A>G	NCBI36
NG_028282.1:g.103654T>C , LRG_371:g.103654T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.525T>C
ENST00000687688.1:n.1256T>C
ENST00000692906.1:n.1225T>C
ENST00000216484.7:c.1493T>C MANE Select	ENSP00000216484.2:p.Phe498Ser
ENST00000216484.6:c.1493T>C	ENSP00000216484.2:p.Phe498Ser
ENST00000556607.1:c.321T>C	ENSP00000451029.1:n.321T>C
NM_004863.3:c.1493T>C , LRG_371t1:c.1493T>C	NP_004854.1:p.Phe498Ser
NM_004863.4:c.1493T>C MANE Select	NP_004854.1:p.Phe498Ser