Canonical Allele Identifier: CA1085973475
Gene: ELOVL2 HGNC NCBI

Linked Data

dbSNP Id: rs1781944406
gnomAD v3: 6-10982058-G-A
gnomAD v4: 6-10982058-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982058G>A , CM000668.2:g.10982058G>A GRCh38
NC_000006.11:g.10982291G>A , CM000668.1:g.10982291G>A GRCh37
NC_000006.10:g.11090277G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000354666.4:c.*1723C>T MANE Select ENSP00000346693.3:n.*1723C>T
ENST00000354666.3:c.*1723C>T ENSP00000346693.3:n.*1723C>T
NM_017770.3:c.*1723C>T NP_060240.3:n.*1723C>T
XM_011514716.1:c.*1723C>T XP_011513018.1:n.*1723C>T
XM_011514717.1:c.*1723C>T XP_011513019.1:n.*1723C>T
XM_011514716.3:c.*1723C>T XP_011513018.1:n.*1723C>T
NM_017770.4:c.*1723C>T MANE Select NP_060240.3:n.*1723C>T
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