Canonical Allele Identifier: CA615216553

Gene: SPTLC2

Linked Data

• dbSNP Id: rs754179729
• gnomAD v2: 14-77984354-T-G
• gnomAD v3: 14-77518011-T-G
• gnomAD v4: 14-77518011-T-G
• MyVariant Identifiers: chr14:g.77984354T>G (hg19) ; chr14:g.77518011T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518011T>G , CM000676.2:g.77518011T>G	GRCh38
NC_000014.8:g.77984354T>G , CM000676.1:g.77984354T>G	GRCh37
NC_000014.7:g.77054107T>G	NCBI36
NG_028282.1:g.103757A>C , LRG_371:g.103757A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686627.1:n.601+27A>C
ENST00000687688.1:n.1332+27A>C
ENST00000692906.1:n.1301+27A>C
ENST00000216484.7:c.1569+27A>C MANE Select	ENSP00000216484.2:n.1569+27A>C
ENST00000216484.6:c.1569+27A>C	ENSP00000216484.2:n.1569+27A>C
ENST00000556607.1:c.397+27A>C	ENSP00000451029.1:n.397+27A>C
NM_004863.3:c.1569+27A>C , LRG_371t1:c.1569+27A>C	NP_004854.1:n.1569+27A>C
NM_004863.4:c.1569+27A>C MANE Select	NP_004854.1:n.1569+27A>C