Canonical Allele Identifier: CA390699825

Gene: SPTLC2

Linked Data

• MyVariant Identifiers: chr14:g.77984410C>G (hg19) ; chr14:g.77518067C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518067C>G , CM000676.2:g.77518067C>G	GRCh38
NC_000014.8:g.77984410C>G , CM000676.1:g.77984410C>G	GRCh37
NC_000014.7:g.77054163C>G	NCBI36
NG_028282.1:g.103701G>C , LRG_371:g.103701G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.572G>C
ENST00000687688.1:n.1303G>C
ENST00000692906.1:n.1272G>C
ENST00000216484.7:c.1540G>C MANE Select	ENSP00000216484.2:p.Ala514Pro
ENST00000216484.6:c.1540G>C	ENSP00000216484.2:p.Ala514Pro
ENST00000556607.1:c.368G>C	ENSP00000451029.1:n.368G>C
NM_004863.3:c.1540G>C , LRG_371t1:c.1540G>C	NP_004854.1:p.Ala514Pro
NM_004863.4:c.1540G>C MANE Select	NP_004854.1:p.Ala514Pro