Canonical Allele Identifier: CA615216558

Gene: SPTLC2

Linked Data

• dbSNP Id: rs1359162982
• gnomAD v2: 14-77984539-CAGG-C
• gnomAD v4: 14-77518196-CAGG-C
• MyVariant Identifiers: chr14:g.77984540_77984542del (hg19) ; chr14:g.77518197_77518199del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518202_77518204del , CM000676.2:g.77518202_77518204del	GRCh38
NC_000014.8:g.77984545_77984547del , CM000676.1:g.77984545_77984547del	GRCh37
NC_000014.7:g.77054298_77054300del	NCBI36
NG_028282.1:g.103569_103571del , LRG_371:g.103569_103571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.472-32_472-30del
ENST00000687688.1:n.1203-32_1203-30del
ENST00000692906.1:n.1172-32_1172-30del
ENST00000216484.7:c.1440-32_1440-30del MANE Select	ENSP00000216484.2:n.1440-32_1440-30del
ENST00000216484.6:c.1440-32_1440-30del	ENSP00000216484.2:n.1440-32_1440-30del
ENST00000556607.1:c.268-32_268-30del	ENSP00000451029.1:n.268-32_268-30del
NM_004863.3:c.1440-32_1440-30del , LRG_371t1:c.1440-32_1440-30del	NP_004854.1:n.1440-32_1440-30del
NM_004863.4:c.1440-32_1440-30del MANE Select	NP_004854.1:n.1440-32_1440-30del