Canonical Allele Identifier: CA487325307

Gene: SPTLC2

Linked Data

• MyVariant Identifiers: chr14:g.77984468A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518125A>T , CM000676.2:g.77518125A>T	GRCh38
NC_000014.8:g.77984468A>T , CM000676.1:g.77984468A>T	GRCh37
NC_000014.7:g.77054221A>T	NCBI36
NG_028282.1:g.103643T>A , LRG_371:g.103643T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.514T>A
ENST00000687688.1:n.1245T>A
ENST00000692906.1:n.1214T>A
ENST00000216484.7:c.1482T>A MANE Select	ENSP00000216484.2:p.Val494=
ENST00000216484.6:c.1482T>A	ENSP00000216484.2:p.Val494=
ENST00000556607.1:c.310T>A	ENSP00000451029.1:n.310T>A
NM_004863.3:c.1482T>A , LRG_371t1:c.1482T>A	NP_004854.1:p.Val494=
NM_004863.4:c.1482T>A MANE Select	NP_004854.1:p.Val494=