Canonical Allele Identifier: CA1610232315
Gene: ELOVL2 HGNC NCBI

Linked Data

dbSNP Id: rs1781952422

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982315C>T , CM000668.2:g.10982315C>T GRCh38
NC_000006.11:g.10982548C>T , CM000668.1:g.10982548C>T GRCh37
NC_000006.10:g.11090534C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1466G>A MANE Select ENSP00000346693.3:n.*1466G>A
ENST00000354666.3:c.*1466G>A ENSP00000346693.3:n.*1466G>A
NM_017770.3:c.*1466G>A NP_060240.3:n.*1466G>A
XM_011514716.1:c.*1466G>A XP_011513018.1:n.*1466G>A
XM_011514717.1:c.*1466G>A XP_011513019.1:n.*1466G>A
XM_011514716.3:c.*1466G>A XP_011513018.1:n.*1466G>A
NM_017770.4:c.*1466G>A MANE Select NP_060240.3:n.*1466G>A