Canonical Allele Identifier: CA1610232048
Gene: ELOVL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982035A= , CM000668.2:g.10982035A= GRCh38
NC_000006.11:g.10982268A= , CM000668.1:g.10982268A= GRCh37
NC_000006.10:g.11090254A= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000354666.4:c.*1746T= MANE Select ENSP00000346693.3:n.*1746T=
ENST00000354666.3:c.*1746T= ENSP00000346693.3:n.*1746T=
NM_017770.3:c.*1746T= NP_060240.3:n.*1746T=
XM_011514716.1:c.*1746T= XP_011513018.1:n.*1746T=
XM_011514717.1:c.*1746T= XP_011513019.1:n.*1746T=
XM_011514716.3:c.*1746T= XP_011513018.1:n.*1746T=
NM_017770.4:c.*1746T= MANE Select NP_060240.3:n.*1746T=