Canonical Allele Identifier: CA615216560
Gene: SPTLC2 HGNC NCBI

Linked Data

dbSNP Id: rs1248068070
gnomAD v2: 14-77984541-G-C
gnomAD v3: 14-77518198-G-C
gnomAD v4: 14-77518198-G-C
MyVariant Identifiers: chr14:g.77984541G>C (hg19) chr14:g.77518198G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518198G>C , CM000676.2:g.77518198G>C GRCh38
NC_000014.8:g.77984541G>C , CM000676.1:g.77984541G>C GRCh37
NC_000014.7:g.77054294G>C NCBI36
NG_028282.1:g.103570C>G , LRG_371:g.103570C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.472-31C>G
ENST00000687688.1:n.1203-31C>G
ENST00000692906.1:n.1172-31C>G
ENST00000216484.7:c.1440-31C>G MANE Select ENSP00000216484.2:n.1440-31C>G
ENST00000216484.6:c.1440-31C>G ENSP00000216484.2:n.1440-31C>G
ENST00000556607.1:c.268-31C>G ENSP00000451029.1:n.268-31C>G
NM_004863.3:c.1440-31C>G , LRG_371t1:c.1440-31C>G NP_004854.1:n.1440-31C>G
NM_004863.4:c.1440-31C>G MANE Select NP_004854.1:n.1440-31C>G
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