Canonical Allele Identifier: CA2677321372
Gene: ELOVL2 HGNC NCBI

Linked Data

gnomAD v4: 6-10982223-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982223G>T , CM000668.2:g.10982223G>T GRCh38
NC_000006.11:g.10982456G>T , CM000668.1:g.10982456G>T GRCh37
NC_000006.10:g.11090442G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1558C>A MANE Select ENSP00000346693.3:n.*1558C>A
ENST00000354666.3:c.*1558C>A ENSP00000346693.3:n.*1558C>A
NM_017770.3:c.*1558C>A NP_060240.3:n.*1558C>A
XM_011514716.1:c.*1558C>A XP_011513018.1:n.*1558C>A
XM_011514717.1:c.*1558C>A XP_011513019.1:n.*1558C>A
XM_011514716.3:c.*1558C>A XP_011513018.1:n.*1558C>A
NM_017770.4:c.*1558C>A MANE Select NP_060240.3:n.*1558C>A
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