Canonical Allele Identifier: CA390699920

Gene: SPTLC2

Linked Data

• MyVariant Identifiers: chr14:g.77984436T>A (hg19) ; chr14:g.77518093T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518093T>A , CM000676.2:g.77518093T>A	GRCh38
NC_000014.8:g.77984436T>A , CM000676.1:g.77984436T>A	GRCh37
NC_000014.7:g.77054189T>A	NCBI36
NG_028282.1:g.103675A>T , LRG_371:g.103675A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.546A>T
ENST00000687688.1:n.1277A>T
ENST00000692906.1:n.1246A>T
ENST00000216484.7:c.1514A>T MANE Select	ENSP00000216484.2:p.Glu505Val
ENST00000216484.6:c.1514A>T	ENSP00000216484.2:p.Glu505Val
ENST00000556607.1:c.342A>T	ENSP00000451029.1:n.342A>T
NM_004863.3:c.1514A>T , LRG_371t1:c.1514A>T	NP_004854.1:p.Glu505Val
NM_004863.4:c.1514A>T MANE Select	NP_004854.1:p.Glu505Val