Canonical Allele Identifier: CA2625880776
Gene: SPTLC2 HGNC NCBI

Linked Data

gnomAD v4: 14-77518183-CAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518184_77518185del , CM000676.2:g.77518184_77518185del GRCh38
NC_000014.8:g.77984527_77984528del , CM000676.1:g.77984527_77984528del GRCh37
NC_000014.7:g.77054280_77054281del NCBI36
NG_028282.1:g.103583_103584del , LRG_371:g.103583_103584del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.472-18_472-17del
ENST00000687688.1:n.1203-18_1203-17del
ENST00000692906.1:n.1172-18_1172-17del
ENST00000216484.7:c.1440-18_1440-17del MANE Select ENSP00000216484.2:n.1440-18_1440-17del
ENST00000216484.6:c.1440-18_1440-17del ENSP00000216484.2:n.1440-18_1440-17del
ENST00000556607.1:c.268-18_268-17del ENSP00000451029.1:n.268-18_268-17del
NM_004863.3:c.1440-18_1440-17del , LRG_371t1:c.1440-18_1440-17del NP_004854.1:n.1440-18_1440-17del
NM_004863.4:c.1440-18_1440-17del MANE Select NP_004854.1:n.1440-18_1440-17del
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