Canonical Allele Identifier: CA1610232058
Gene: ELOVL2 HGNC NCBI

Linked Data

dbSNP Id: rs1781944134
gnomAD v4: 6-10982045-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982045A>G , CM000668.2:g.10982045A>G GRCh38
NC_000006.11:g.10982278A>G , CM000668.1:g.10982278A>G GRCh37
NC_000006.10:g.11090264A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000354666.4:c.*1736T>C MANE Select ENSP00000346693.3:n.*1736T>C
ENST00000354666.3:c.*1736T>C ENSP00000346693.3:n.*1736T>C
NM_017770.3:c.*1736T>C NP_060240.3:n.*1736T>C
XM_011514716.1:c.*1736T>C XP_011513018.1:n.*1736T>C
XM_011514717.1:c.*1736T>C XP_011513019.1:n.*1736T>C
XM_011514716.3:c.*1736T>C XP_011513018.1:n.*1736T>C
NM_017770.4:c.*1736T>C MANE Select NP_060240.3:n.*1736T>C
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