Canonical Allele Identifier: CA134135559
Gene: ELOVL2 HGNC NCBI

Linked Data

dbSNP Id: rs1000536485
gnomAD v2: 6-10982500-A-C
gnomAD v3: 6-10982267-A-C
gnomAD v4: 6-10982267-A-C
MyVariant Identifiers: chr6:g.10982500A>C (hg19) chr6:g.10982267A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982267A>C , CM000668.2:g.10982267A>C GRCh38
NC_000006.11:g.10982500A>C , CM000668.1:g.10982500A>C GRCh37
NC_000006.10:g.11090486A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1514T>G MANE Select ENSP00000346693.3:n.*1514T>G
ENST00000354666.3:c.*1514T>G ENSP00000346693.3:n.*1514T>G
NM_017770.3:c.*1514T>G NP_060240.3:n.*1514T>G
XM_011514716.1:c.*1514T>G XP_011513018.1:n.*1514T>G
XM_011514717.1:c.*1514T>G XP_011513019.1:n.*1514T>G
XM_011514716.3:c.*1514T>G XP_011513018.1:n.*1514T>G
NM_017770.4:c.*1514T>G MANE Select NP_060240.3:n.*1514T>G
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