Canonical Allele Identifier: CA134135470
Gene: ELOVL2 HGNC NCBI

Linked Data

dbSNP Id: rs918050822
gnomAD v3: 6-10982031-C-T
gnomAD v4: 6-10982031-C-T
MyVariant Identifiers: chr6:g.10982264C>T (hg19) chr6:g.10982031C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982031C>T , CM000668.2:g.10982031C>T GRCh38
NC_000006.11:g.10982264C>T , CM000668.1:g.10982264C>T GRCh37
NC_000006.10:g.11090250C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000354666.4:c.*1750G>A MANE Select ENSP00000346693.3:n.*1750G>A
ENST00000354666.3:c.*1750G>A ENSP00000346693.3:n.*1750G>A
NM_017770.3:c.*1750G>A NP_060240.3:n.*1750G>A
XM_011514716.1:c.*1750G>A XP_011513018.1:n.*1750G>A
XM_011514717.1:c.*1750G>A XP_011513019.1:n.*1750G>A
XM_011514716.3:c.*1750G>A XP_011513018.1:n.*1750G>A
NM_017770.4:c.*1750G>A MANE Select NP_060240.3:n.*1750G>A
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