Canonical Allele Identifier: CA2677321306
Gene: ELOVL2 HGNC NCBI

Linked Data

gnomAD v4: 6-10982037-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982037A>G , CM000668.2:g.10982037A>G GRCh38
NC_000006.11:g.10982270A>G , CM000668.1:g.10982270A>G GRCh37
NC_000006.10:g.11090256A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000354666.4:c.*1744T>C MANE Select ENSP00000346693.3:n.*1744T>C
ENST00000354666.3:c.*1744T>C ENSP00000346693.3:n.*1744T>C
NM_017770.3:c.*1744T>C NP_060240.3:n.*1744T>C
XM_011514716.1:c.*1744T>C XP_011513018.1:n.*1744T>C
XM_011514717.1:c.*1744T>C XP_011513019.1:n.*1744T>C
XM_011514716.3:c.*1744T>C XP_011513018.1:n.*1744T>C
NM_017770.4:c.*1744T>C MANE Select NP_060240.3:n.*1744T>C
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