Canonical Allele Identifier: CA7289151

Gene: SPTLC2

Linked Data

• ClinVar Variation Id: 383823
• ClinVar RCV Id: RCV000444734 ; RCV002521650
• dbSNP Id: rs556451968
• ExAC: 14:77984515 A / C
• gnomAD v2: 14-77984515-A-C
• gnomAD v3: 14-77518172-A-C
• gnomAD v4: 14-77518172-A-C
• MyVariant Identifiers: chr14:g.77984515A>C (hg19) ; chr14:g.77518172A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518172A>C , CM000676.2:g.77518172A>C	GRCh38
NC_000014.8:g.77984515A>C , CM000676.1:g.77984515A>C	GRCh37
NC_000014.7:g.77054268A>C	NCBI36
NG_028282.1:g.103596T>G , LRG_371:g.103596T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.472-5T>G
ENST00000687688.1:n.1203-5T>G
ENST00000692906.1:n.1172-5T>G
ENST00000216484.7:c.1440-5T>G MANE Select	ENSP00000216484.2:n.1440-5T>G
ENST00000216484.6:c.1440-5T>G	ENSP00000216484.2:n.1440-5T>G
ENST00000556607.1:c.268-5T>G	ENSP00000451029.1:n.268-5T>G
NM_004863.3:c.1440-5T>G , LRG_371t1:c.1440-5T>G	NP_004854.1:n.1440-5T>G
NM_004863.4:c.1440-5T>G MANE Select	NP_004854.1:n.1440-5T>G