Canonical Allele Identifier: CA487325201
Gene: SPTLC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.77984384A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518041A>G , CM000676.2:g.77518041A>G GRCh38
NC_000014.8:g.77984384A>G , CM000676.1:g.77984384A>G GRCh37
NC_000014.7:g.77054137A>G NCBI36
NG_028282.1:g.103727T>C , LRG_371:g.103727T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.598T>C
ENST00000687688.1:n.1329T>C
ENST00000692906.1:n.1298T>C
ENST00000216484.7:c.1566T>C MANE Select ENSP00000216484.2:p.Asp522=
ENST00000216484.6:c.1566T>C ENSP00000216484.2:p.Asp522=
ENST00000556607.1:c.394T>C ENSP00000451029.1:n.394T>C
NM_004863.3:c.1566T>C , LRG_371t1:c.1566T>C NP_004854.1:p.Asp522=
NM_004863.4:c.1566T>C MANE Select NP_004854.1:p.Asp522=