Canonical Allele Identifier: CA1610232127
Gene: ELOVL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982138G= , CM000668.2:g.10982138G= GRCh38
NC_000006.11:g.10982371G= , CM000668.1:g.10982371G= GRCh37
NC_000006.10:g.11090357G= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000354666.4:c.*1643C= MANE Select ENSP00000346693.3:n.*1643C=
ENST00000354666.3:c.*1643C= ENSP00000346693.3:n.*1643C=
NM_017770.3:c.*1643C= NP_060240.3:n.*1643C=
XM_011514716.1:c.*1643C= XP_011513018.1:n.*1643C=
XM_011514717.1:c.*1643C= XP_011513019.1:n.*1643C=
XM_011514716.3:c.*1643C= XP_011513018.1:n.*1643C=
NM_017770.4:c.*1643C= MANE Select NP_060240.3:n.*1643C=