Canonical Allele Identifier: CA10646370

Gene: SPTLC2

Linked Data

• ClinVar Variation Id: 314607
• ClinVar RCV Id: RCV000272079
• dbSNP Id: rs886050836
• gnomAD v3: 14-77508827-A-G
• gnomAD v4: 14-77508827-A-G
• MyVariant Identifiers: chr14:g.77975170A>G (hg19) ; chr14:g.77508827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77508827A>G , CM000676.2:g.77508827A>G	GRCh38
NC_000014.8:g.77975170A>G , CM000676.1:g.77975170A>G	GRCh37
NC_000014.7:g.77044923A>G	NCBI36
NG_028282.1:g.112941T>C , LRG_371:g.112941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.4178T>C
ENST00000687688.1:n.4909T>C
ENST00000692906.1:n.4878T>C
ENST00000216484.7:c.*3457T>C MANE Select	ENSP00000216484.2:n.*3457T>C
ENST00000216484.6:c.*3457T>C	ENSP00000216484.2:n.*3457T>C
NM_004863.3:c.*3457T>C , LRG_371t1:c.*3457T>C	NP_004854.1:n.*3457T>C
NM_004863.4:c.*3457T>C MANE Select	NP_004854.1:n.*3457T>C