Canonical Allele Identifier: CA1610232297
Gene: ELOVL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982303G= , CM000668.2:g.10982303G= GRCh38
NC_000006.11:g.10982536G= , CM000668.1:g.10982536G= GRCh37
NC_000006.10:g.11090522G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1478C= MANE Select ENSP00000346693.3:n.*1478C=
ENST00000354666.3:c.*1478C= ENSP00000346693.3:n.*1478C=
NM_017770.3:c.*1478C= NP_060240.3:n.*1478C=
XM_011514716.1:c.*1478C= XP_011513018.1:n.*1478C=
XM_011514717.1:c.*1478C= XP_011513019.1:n.*1478C=
XM_011514716.3:c.*1478C= XP_011513018.1:n.*1478C=
NM_017770.4:c.*1478C= MANE Select NP_060240.3:n.*1478C=