Canonical Allele Identifier: CA390699923

Gene: SPTLC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.546A>C
ENST00000687688.1:n.1277A>C
ENST00000692906.1:n.1246A>C
ENST00000216484.7:c.1514A>C MANE Select	ENSP00000216484.2:p.Glu505Ala
ENST00000216484.6:c.1514A>C	ENSP00000216484.2:p.Glu505Ala
ENST00000556607.1:c.342A>C	ENSP00000451029.1:n.342A>C
NM_004863.3:c.1514A>C , LRG_371t1:c.1514A>C	NP_004854.1:p.Glu505Ala
NM_004863.4:c.1514A>C MANE Select	NP_004854.1:p.Glu505Ala