Canonical Allele Identifier: CA565392493
Gene: ELOVL2 HGNC NCBI

Linked Data

dbSNP Id: rs1198609346
gnomAD v2: 6-10982532-A-G
gnomAD v3: 6-10982299-A-G
gnomAD v4: 6-10982299-A-G
MyVariant Identifiers: chr6:g.10982532A>G (hg19) chr6:g.10982299A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982299A>G , CM000668.2:g.10982299A>G GRCh38
NC_000006.11:g.10982532A>G , CM000668.1:g.10982532A>G GRCh37
NC_000006.10:g.11090518A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1482T>C MANE Select ENSP00000346693.3:n.*1482T>C
ENST00000354666.3:c.*1482T>C ENSP00000346693.3:n.*1482T>C
NM_017770.3:c.*1482T>C NP_060240.3:n.*1482T>C
XM_011514716.1:c.*1482T>C XP_011513018.1:n.*1482T>C
XM_011514717.1:c.*1482T>C XP_011513019.1:n.*1482T>C
XM_011514716.3:c.*1482T>C XP_011513018.1:n.*1482T>C
NM_017770.4:c.*1482T>C MANE Select NP_060240.3:n.*1482T>C
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