Canonical Allele Identifier: CA263825251

Gene: SPTLC2

Linked Data

• dbSNP Id: rs926876182
• gnomAD v2: 14-77984273-C-T
• gnomAD v3: 14-77517930-C-T
• gnomAD v4: 14-77517930-C-T
• MyVariant Identifiers: chr14:g.77984273C>T (hg19) ; chr14:g.77517930C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77517930C>T , CM000676.2:g.77517930C>T	GRCh38
NC_000014.8:g.77984273C>T , CM000676.1:g.77984273C>T	GRCh37
NC_000014.7:g.77054026C>T	NCBI36
NG_028282.1:g.103838G>A , LRG_371:g.103838G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.601+108G>A
ENST00000687688.1:n.1332+108G>A
ENST00000692906.1:n.1301+108G>A
ENST00000216484.7:c.1569+108G>A MANE Select	ENSP00000216484.2:n.1569+108G>A
ENST00000216484.6:c.1569+108G>A	ENSP00000216484.2:n.1569+108G>A
ENST00000556607.1:c.397+108G>A	ENSP00000451029.1:n.397+108G>A
NM_004863.3:c.1569+108G>A , LRG_371t1:c.1569+108G>A	NP_004854.1:n.1569+108G>A
NM_004863.4:c.1569+108G>A MANE Select	NP_004854.1:n.1569+108G>A