Canonical Allele Identifier: CA263825256

Gene: SPTLC2

Linked Data

• dbSNP Id: rs757508286
• gnomAD v2: 14-77984275-T-TG
• gnomAD v3: 14-77517932-T-TG
• gnomAD v4: 14-77517932-T-TG
• MyVariant Identifiers: chr14:g.77984275_77984276insG (hg19) ; chr14:g.77517932_77517933insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77517932_77517933insG , CM000676.2:g.77517932_77517933insG	GRCh38
NC_000014.8:g.77984275_77984276insG , CM000676.1:g.77984275_77984276insG	GRCh37
NC_000014.7:g.77054028_77054029insG	NCBI36
NG_028282.1:g.103835_103836insC , LRG_371:g.103835_103836insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.601+105_601+106insC
ENST00000687688.1:n.1332+105_1332+106insC
ENST00000692906.1:n.1301+105_1301+106insC
ENST00000216484.7:c.1569+105_1569+106insC MANE Select	ENSP00000216484.2:n.1569+105_1569+106insC
ENST00000216484.6:c.1569+105_1569+106insC	ENSP00000216484.2:n.1569+105_1569+106insC
ENST00000556607.1:c.397+105_397+106insC	ENSP00000451029.1:n.397+105_397+106insC
NM_004863.3:c.1569+105_1569+106insC , LRG_371t1:c.1569+105_1569+106insC	NP_004854.1:n.1569+105_1569+106insC
NM_004863.4:c.1569+105_1569+106insC MANE Select	NP_004854.1:n.1569+105_1569+106insC