Canonical Allele Identifier: CA2625880661

Gene: SPTLC2

Linked Data

• gnomAD v4: 14-77517890-TAAATGCCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77517891_77517899del , CM000676.2:g.77517891_77517899del	GRCh38
NC_000014.8:g.77984234_77984242del , CM000676.1:g.77984234_77984242del	GRCh37
NC_000014.7:g.77053987_77053995del	NCBI36
NG_028282.1:g.103869_103877del , LRG_371:g.103869_103877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.601+139_601+147del
ENST00000687688.1:n.1332+139_1332+147del
ENST00000692906.1:n.1301+139_1301+147del
ENST00000216484.7:c.1569+139_1569+147del MANE Select	ENSP00000216484.2:n.1569+139_1569+147del
ENST00000216484.6:c.1569+139_1569+147del	ENSP00000216484.2:n.1569+139_1569+147del
ENST00000556607.1:c.397+139_397+147del	ENSP00000451029.1:n.397+139_397+147del
NM_004863.3:c.1569+139_1569+147del , LRG_371t1:c.1569+139_1569+147del	NP_004854.1:n.1569+139_1569+147del
NM_004863.4:c.1569+139_1569+147del MANE Select	NP_004854.1:n.1569+139_1569+147del