Canonical Allele Identifier: CA487325306
Gene: SPTLC2 HGNC NCBI

Linked Data

dbSNP Id: rs1224153585
gnomAD v2: 14-77984468-A-G
gnomAD v3: 14-77518125-A-G
gnomAD v4: 14-77518125-A-G
MyVariant Identifiers: chr14:g.77984468A>G (hg19) chr14:g.77518125A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518125A>G , CM000676.2:g.77518125A>G GRCh38
NC_000014.8:g.77984468A>G , CM000676.1:g.77984468A>G GRCh37
NC_000014.7:g.77054221A>G NCBI36
NG_028282.1:g.103643T>C , LRG_371:g.103643T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.514T>C
ENST00000687688.1:n.1245T>C
ENST00000692906.1:n.1214T>C
ENST00000216484.7:c.1482T>C MANE Select ENSP00000216484.2:p.Val494=
ENST00000216484.6:c.1482T>C ENSP00000216484.2:p.Val494=
ENST00000556607.1:c.310T>C ENSP00000451029.1:n.310T>C
NM_004863.3:c.1482T>C , LRG_371t1:c.1482T>C NP_004854.1:p.Val494=
NM_004863.4:c.1482T>C MANE Select NP_004854.1:p.Val494=
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