Canonical Allele Identifier: CA2677321384
Gene: ELOVL2 HGNC NCBI

Linked Data

gnomAD v4: 6-10982283-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982283C>A , CM000668.2:g.10982283C>A GRCh38
NC_000006.11:g.10982516C>A , CM000668.1:g.10982516C>A GRCh37
NC_000006.10:g.11090502C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1498G>T MANE Select ENSP00000346693.3:n.*1498G>T
ENST00000354666.3:c.*1498G>T ENSP00000346693.3:n.*1498G>T
NM_017770.3:c.*1498G>T NP_060240.3:n.*1498G>T
XM_011514716.1:c.*1498G>T XP_011513018.1:n.*1498G>T
XM_011514717.1:c.*1498G>T XP_011513019.1:n.*1498G>T
XM_011514716.3:c.*1498G>T XP_011513018.1:n.*1498G>T
NM_017770.4:c.*1498G>T MANE Select NP_060240.3:n.*1498G>T