Canonical Allele Identifier: CA7289143

Gene: SPTLC2

Linked Data

• ClinVar Variation Id: 538854
• ClinVar RCV Id: RCV000648367 ; RCV001093131 ; RCV002388117
• dbSNP Id: rs374657234
• ExAC: 14:77984480 G / A
• gnomAD v2: 14-77984480-G-A
• gnomAD v3: 14-77518137-G-A
• gnomAD v4: 14-77518137-G-A
• MyVariant Identifiers: chr14:g.77984480G>A (hg19) ; chr14:g.77518137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518137G>A , CM000676.2:g.77518137G>A	GRCh38
NC_000014.8:g.77984480G>A , CM000676.1:g.77984480G>A	GRCh37
NC_000014.7:g.77054233G>A	NCBI36
NG_028282.1:g.103631C>T , LRG_371:g.103631C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.502C>T
ENST00000687688.1:n.1233C>T
ENST00000692906.1:n.1202C>T
ENST00000216484.7:c.1470C>T MANE Select	ENSP00000216484.2:p.Asn490=
ENST00000216484.6:c.1470C>T	ENSP00000216484.2:p.Asn490=
ENST00000556607.1:c.298C>T	ENSP00000451029.1:n.298C>T
NM_004863.3:c.1470C>T , LRG_371t1:c.1470C>T	NP_004854.1:p.Asn490=
NM_004863.4:c.1470C>T MANE Select	NP_004854.1:p.Asn490=