Canonical Allele Identifier: CA2710936269
Gene: ELOVL2 HGNC NCBI

Linked Data

dbSNP Id: rs2113453869

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982336_10982338del , CM000668.2:g.10982336_10982338del GRCh38
NC_000006.11:g.10982569_10982571del , CM000668.1:g.10982569_10982571del GRCh37
NC_000006.10:g.11090555_11090557del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1444_*1446del MANE Select ENSP00000346693.3:n.*1444_*1446del
ENST00000354666.3:c.*1444_*1446del ENSP00000346693.3:n.*1444_*1446del
NM_017770.3:c.*1444_*1446del NP_060240.3:n.*1444_*1446del
XM_011514716.1:c.*1444_*1446del XP_011513018.1:n.*1444_*1446del
XM_011514717.1:c.*1444_*1446del XP_011513019.1:n.*1444_*1446del
XM_011514716.3:c.*1444_*1446del XP_011513018.1:n.*1444_*1446del
NM_017770.4:c.*1444_*1446del MANE Select NP_060240.3:n.*1444_*1446del