Canonical Allele Identifier: CA2575590028
Gene: SPTLC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518263dup , CM000676.2:g.77518263dup GRCh38
NC_000014.8:g.77984606dup , CM000676.1:g.77984606dup GRCh37
NC_000014.7:g.77054359dup NCBI36
NG_028282.1:g.103505dup , LRG_371:g.103505dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.472-96dup
ENST00000687688.1:n.1203-96dup
ENST00000692906.1:n.1172-96dup
ENST00000216484.7:c.1440-96dup MANE Select ENSP00000216484.2:n.1440-96dup
ENST00000216484.6:c.1440-96dup ENSP00000216484.2:n.1440-96dup
ENST00000556607.1:c.268-96dup ENSP00000451029.1:n.268-96dup
NM_004863.3:c.1440-96dup , LRG_371t1:c.1440-96dup NP_004854.1:n.1440-96dup
NM_004863.4:c.1440-96dup MANE Select NP_004854.1:n.1440-96dup
Search 100 bp 5'
Search 100 bp 3'